ClinVar 임상 비교

AlphaMissense AI 예측 vs ClinVar 실제 임상 분류 — 일치/불일치 분석

전체 일치도 대시보드 ClinVar
ClinVar 변이 (서브셋)
319,822
우리 보유 유전자만
커버 유전자
308
병원성/가능 변이
56,770
AM과 교차 가능
154,518
단백질 변이 추출
유전자별 AM 예측 vs ClinVar 임상 분류 일치도

MYH7: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
220
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
19
⚠ CV=양성 / AM=병원성
2
— AM 미적재
259
AM ↔ ClinVar 비교 가능 변이 241건 중 220건 일치 / 21건 불일치 — 일치도 91.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*1936W Uncertain significance — 미적재 해석 →
A100T Uncertain significance 0.818 pathogenic 해석 →
A1113T Uncertain significance 0.653 pathogenic 해석 →
A1379S Likely pathogenic 0.397 ambiguous 해석 →
A1379T Pathogenic/Likely pathogenic 0.784 pathogenic ✓ 해석 →
A1437P Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
A1549D Likely pathogenic 0.876 pathogenic ✓ 해석 →
A1603P Likely pathogenic 0.997 pathogenic ✓ 해석 →
A1632T Conflicting classifications of pathogeni 0.151 benign 해석 →
A1636P Pathogenic 0.995 pathogenic ✓ 해석 →
A1766T Conflicting classifications of pathogeni 0.978 pathogenic 해석 →
A1777T Uncertain significance 0.295 benign 해석 →
A1800P Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
A1800V Conflicting classifications of pathogeni 0.893 pathogenic 해석 →
A1804T Conflicting classifications of pathogeni 0.703 pathogenic 해석 →
A1906G Likely pathogenic 0.379 ambiguous 해석 →
A199E Likely pathogenic 0.998 pathogenic ✓ 해석 →
A199T Likely pathogenic 0.907 pathogenic ✓ 해석 →
A199V Pathogenic/Likely pathogenic 0.964 pathogenic ✓ 해석 →
A200V Likely pathogenic 0.548 ambiguous 해석 →
A223T Uncertain significance 0.836 pathogenic 해석 →
A226T Conflicting classifications of pathogeni 0.761 pathogenic 해석 →
A226V Conflicting classifications of pathogeni 0.558 ambiguous 해석 →
A229V Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
A254E Pathogenic 0.905 pathogenic ✓ 해석 →
A259E Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
A321S Likely pathogenic 0.097 benign ⚠ 해석 →
A335P Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A355S Likely pathogenic 0.118 benign ⚠ 해석 →
A355T Pathogenic/Likely pathogenic 0.749 pathogenic ✓ 해석 →
A373V Conflicting classifications of pathogeni 0.950 pathogenic 해석 →
A381D Conflicting classifications of pathogeni 0.991 pathogenic 해석 →
A381T Uncertain significance 0.263 benign 해석 →
A393P Conflicting classifications of pathogeni 0.859 pathogenic 해석 →
A393V Conflicting classifications of pathogeni 0.493 ambiguous 해석 →
A423T Likely pathogenic 0.187 benign ⚠ 해석 →
A426V Pathogenic 0.934 pathogenic ✓ 해석 →
A428D Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
A428V Conflicting classifications of pathogeni 0.831 pathogenic 해석 →
A430E Likely pathogenic 0.909 pathogenic ✓ 해석 →
A543T Uncertain significance 0.963 pathogenic 해석 →
A583V Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
A649V Likely pathogenic 0.611 pathogenic ✓ 해석 →
A729P Pathogenic 0.977 pathogenic ✓ 해석 →
A797P Conflicting classifications of pathogeni 0.986 pathogenic 해석 →
A797T Conflicting classifications of pathogeni 0.178 benign 해석 →
A797V Conflicting classifications of pathogeni 0.290 benign 해석 →
A820D Pathogenic/Likely pathogenic 0.968 pathogenic ✓ 해석 →
A820V Likely pathogenic 0.645 pathogenic ✓ 해석 →
A843T Conflicting classifications of pathogeni 0.334 benign 해석 →
A850T Conflicting classifications of pathogeni 0.076 benign 해석 →
A868P Likely pathogenic 0.915 pathogenic ✓ 해석 →
A868T Likely pathogenic 0.059 benign ⚠ 해석 →
A893E Uncertain significance 0.803 pathogenic 해석 →
A893V Uncertain significance 0.320 benign 해석 →
A899E Conflicting classifications of pathogeni 0.600 pathogenic 해석 →
A934V Likely pathogenic 0.297 benign ⚠ 해석 →
A970T Conflicting classifications of pathogeni 0.527 ambiguous 해석 →
C1748Y Conflicting classifications of pathogeni 0.559 ambiguous 해석 →
C520F Likely pathogenic 0.995 pathogenic ✓ 해석 →
C705Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C905F Conflicting classifications of pathogeni 0.946 pathogenic 해석 →
C905S Uncertain significance 0.823 pathogenic 해석 →
C905Y Conflicting classifications of pathogeni 0.958 pathogenic 해석 →
D1058N Conflicting classifications of pathogeni 0.423 ambiguous 해석 →
D1096Y Likely benign 0.797 pathogenic ⚠ 해석 →
D1198Y Conflicting classifications of pathogeni 0.867 pathogenic 해석 →
D1208G Likely pathogenic 0.875 pathogenic ✓ 해석 →
D1208H Pathogenic 0.971 pathogenic ✓ 해석 →
D1208N Conflicting classifications of pathogeni 0.734 pathogenic 해석 →
D1450N Conflicting classifications of pathogeni 0.874 pathogenic 해석 →
D1869G Conflicting classifications of pathogeni 0.599 pathogenic 해석 →
D218Y Conflicting classifications of pathogeni 0.969 pathogenic 해석 →
D239A Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
D239N Likely pathogenic 0.916 pathogenic ✓ 해석 →
D282Y Conflicting classifications of pathogeni 0.916 pathogenic 해석 →
D309N Conflicting classifications of pathogeni 0.640 pathogenic 해석 →
D382G Pathogenic 0.977 pathogenic ✓ 해석 →
D382N Likely pathogenic 0.931 pathogenic ✓ 해석 →
D382Y Conflicting classifications of pathogeni 0.990 pathogenic 해석 →
D394E Pathogenic/Likely pathogenic 0.284 benign ⚠ 해석 →
D394N Conflicting classifications of pathogeni 0.637 pathogenic 해석 →
D461N Likely pathogenic 0.999 pathogenic ✓ 해석 →
D469N Uncertain significance 0.381 ambiguous 해석 →
D469Y Conflicting classifications of pathogeni 0.812 pathogenic 해석 →
D516E Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
D545N Conflicting classifications of pathogeni 0.881 pathogenic 해석 →
D554Y Likely pathogenic 0.951 pathogenic ✓ 해석 →
D587H Likely pathogenic 0.961 pathogenic ✓ 해석 →
D599Y Conflicting classifications of pathogeni 0.984 pathogenic 해석 →
D717A Pathogenic 0.988 pathogenic ✓ 해석 →
D717G Pathogenic 0.993 pathogenic ✓ 해석 →
D717N Conflicting classifications of pathogeni 0.950 pathogenic 해석 →
D717V Likely pathogenic 0.992 pathogenic ✓ 해석 →
D778E Pathogenic 0.973 pathogenic ✓ 해석 →
D778E Pathogenic/Likely pathogenic 0.973 pathogenic ✓ 해석 →
D778G Pathogenic 0.987 pathogenic ✓ 해석 →
D778H Likely pathogenic 0.998 pathogenic ✓ 해석 →
D778N Conflicting classifications of pathogeni 0.980 pathogenic 해석 →
D778V Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
D896N Likely pathogenic 0.474 ambiguous 해석 →
D900N Conflicting classifications of pathogeni 0.658 pathogenic 해석 →
D900V Conflicting classifications of pathogeni 0.924 pathogenic 해석 →
D906G Pathogenic 0.656 pathogenic ✓ 해석 →
D906N Conflicting classifications of pathogeni 0.420 ambiguous 해석 →
D928H Likely pathogenic 0.794 pathogenic ✓ 해석 →
D928N Pathogenic/Likely pathogenic 0.318 benign ⚠ 해석 →
D928V Likely pathogenic 0.431 ambiguous 해석 →
D953H Likely pathogenic 0.925 pathogenic ✓ 해석 →
D953V Conflicting classifications of pathogeni 0.888 pathogenic 해석 →
D955N Conflicting classifications of pathogeni 0.645 pathogenic 해석 →
E1056D Conflicting classifications of pathogeni 0.408 ambiguous 해석 →
E1116* Likely pathogenic — 미적재 해석 →
E1116K Conflicting classifications of pathogeni 0.939 pathogenic 해석 →
E1117* Conflicting classifications of pathogeni — 미적재 해석 →
E1120K Conflicting classifications of pathogeni 0.926 pathogenic 해석 →
E1123Q Conflicting classifications of pathogeni 0.694 pathogenic 해석 →
E1205K Conflicting classifications of pathogeni 0.834 pathogenic 해석 →
E1205Q Conflicting classifications of pathogeni 0.626 pathogenic 해석 →
E1223K Conflicting classifications of pathogeni 0.830 pathogenic 해석 →
E1350K Pathogenic 0.901 pathogenic ✓ 해석 →
E1356K Pathogenic 0.904 pathogenic ✓ 해석 →
E1376K Conflicting classifications of pathogeni 0.975 pathogenic 해석 →
E1426K Uncertain significance 0.987 pathogenic 해석 →
E1468* Conflicting classifications of pathogeni — 미적재 해석 →
E1468K Pathogenic/Likely pathogenic 0.969 pathogenic ✓ 해석 →
E1490D Conflicting classifications of pathogeni 0.591 pathogenic 해석 →
E1496A Conflicting classifications of pathogeni 0.765 pathogenic 해석 →
E1496K Likely pathogenic 0.940 pathogenic ✓ 해석 →
E149K Conflicting classifications of pathogeni 0.954 pathogenic 해석 →
E1548A Conflicting classifications of pathogeni 0.793 pathogenic 해석 →
E1555G Pathogenic 0.802 pathogenic ✓ 해석 →
E1555K Conflicting classifications of pathogeni 0.908 pathogenic 해석 →
E1610Q Conflicting classifications of pathogeni 0.852 pathogenic 해석 →
E1619K Conflicting classifications of pathogeni 0.969 pathogenic 해석 →
E1752G Conflicting classifications of pathogeni 0.601 pathogenic 해석 →
E1752K Pathogenic/Likely pathogenic 0.765 pathogenic ✓ 해석 →
E1768K Uncertain significance 0.997 pathogenic 해석 →
E1787Q Likely pathogenic 0.760 pathogenic ✓ 해석 →
E1799K Uncertain significance 0.941 pathogenic 해석 →
E1801K Likely pathogenic 0.947 pathogenic ✓ 해석 →
E1844K Uncertain significance 0.873 pathogenic 해석 →
E1883K Uncertain significance 0.771 pathogenic 해석 →
E1914D Conflicting classifications of pathogeni 0.817 pathogenic 해석 →
E1914K Likely pathogenic 0.907 pathogenic ✓ 해석 →
E217Q Likely pathogenic 0.940 pathogenic ✓ 해석 →
E317G Likely pathogenic 0.515 ambiguous 해석 →
E328G Likely pathogenic 0.978 pathogenic ✓ 해석 →
E379K Conflicting classifications of pathogeni 0.895 pathogenic 해석 →
E380G Likely pathogenic 0.336 benign ⚠ 해석 →
E466Q Conflicting classifications of pathogeni 0.987 pathogenic 해석 →
E483K Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
E497D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
E500A Conflicting classifications of pathogeni 0.913 pathogenic 해석 →
E525K Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
E535K Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
E535Q Likely pathogenic 0.990 pathogenic ✓ 해석 →
E536D Likely pathogenic 0.994 pathogenic ✓ 해석 →
E536D Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
E537A Likely pathogenic 0.967 pathogenic ✓ 해석 →
E700G Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
E743D Uncertain significance 0.615 pathogenic 해석 →
E775K Likely pathogenic 0.973 pathogenic ✓ 해석 →
E779K Conflicting classifications of pathogeni 0.683 pathogenic 해석 →
E779Q Conflicting classifications of pathogeni 0.419 ambiguous 해석 →
E846K Pathogenic/Likely pathogenic 0.809 pathogenic ✓ 해석 →
E846Q Conflicting classifications of pathogeni 0.553 ambiguous 해석 →
E848D Conflicting classifications of pathogeni 0.350 ambiguous 해석 →
E848G Pathogenic/Likely pathogenic 0.539 ambiguous 해석 →
E861K Conflicting classifications of pathogeni 0.311 benign 해석 →
E874Q Conflicting classifications of pathogeni 0.664 pathogenic 해석 →
E883K Conflicting classifications of pathogeni 0.874 pathogenic 해석 →
E894G Pathogenic 0.396 ambiguous 해석 →
E894K Conflicting classifications of pathogeni 0.803 pathogenic 해석 →
E903G Conflicting classifications of pathogeni 0.561 ambiguous 해석 →
E903K Likely pathogenic 0.906 pathogenic ✓ 해석 →
E903Q Pathogenic 0.725 pathogenic ✓ 해석 →
E921A Conflicting classifications of pathogeni 0.614 pathogenic 해석 →
E921K Pathogenic/Likely pathogenic 0.877 pathogenic ✓ 해석 →
E924G Likely pathogenic 0.471 ambiguous 해석 →
E924K Pathogenic/Likely pathogenic 0.796 pathogenic ✓ 해석 →
E927* Conflicting classifications of pathogeni — 미적재 해석 →
E927K Pathogenic/Likely pathogenic 0.749 pathogenic ✓ 해석 →
E929K Conflicting classifications of pathogeni 0.742 pathogenic 해석 →
E930K Pathogenic 0.626 pathogenic ✓ 해석 →
E930Q Pathogenic/Likely pathogenic 0.472 ambiguous 해석 →
E931G Conflicting classifications of pathogeni 0.349 ambiguous 해석 →
E931K Pathogenic/Likely pathogenic 0.697 pathogenic ✓ 해석 →
E935K Pathogenic 0.559 ambiguous 해석 →
E935V Uncertain significance 0.380 ambiguous 해석 →
E949K Likely pathogenic 0.556 ambiguous 해석 →
E965K Conflicting classifications of pathogeni 0.931 pathogenic 해석 →
F230S Uncertain significance 0.992 pathogenic 해석 →
F244L Pathogenic 1.000 pathogenic ✓ 해석 →
F247C Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
F247L Likely pathogenic 1.000 pathogenic ✓ 해석 →
F247L Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
F252C Likely pathogenic 0.998 pathogenic ✓ 해석 →
F252S Likely pathogenic 1.000 pathogenic ✓ 해석 →
F252Y Likely pathogenic 0.971 pathogenic ✓ 해석 →

AM 임계: 병원성 ≥ 0.564, 양성 < 0.34 (AlphaMissense 권장 컷오프, Cheng et al. Science 2023)

📚 데이터: NCBI ClinVar variant_summary (GRCh38, 최근 다운로드) + 우리 유전자 서브셋만 추출.