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

COL1A2: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
476
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
23
AM ↔ ClinVar 비교 가능 변이 477건 중 476건 일치 / 1건 불일치 — 일치도 99.8%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1043T Conflicting classifications of pathogeni 0.065 benign 해석 →
A1119P Conflicting classifications of pathogeni 0.533 ambiguous 해석 →
A1119T Pathogenic/Likely pathogenic 0.416 ambiguous 해석 →
A1119V Likely pathogenic 0.532 ambiguous 해석 →
A1289P Conflicting classifications of pathogeni 0.989 pathogenic 해석 →
C1195R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1195S Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1195S Pathogenic 1.000 pathogenic ✓ 해석 →
C1272F Pathogenic 0.997 pathogenic ✓ 해석 →
C1272R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1272S Pathogenic 0.999 pathogenic ✓ 해석 →
C1272Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1317* Likely pathogenic — 미적재 해석 →
C1317Y Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
D1120G Pathogenic 0.903 pathogenic ✓ 해석 →
D1120N Pathogenic/Likely pathogenic 0.807 pathogenic ✓ 해석 →
D1165E Pathogenic 0.913 pathogenic ✓ 해석 →
D144G Likely pathogenic 0.713 pathogenic ✓ 해석 →
E1201* Pathogenic — 미적재 해석 →
E1355* Likely pathogenic — 미적재 해석 →
E713* Pathogenic — 미적재 해석 →
G1003D Pathogenic 0.991 pathogenic ✓ 해석 →
G1006A Pathogenic 0.761 pathogenic ✓ 해석 →
G1006S Pathogenic 0.817 pathogenic ✓ 해석 →
G1009A Likely pathogenic 0.800 pathogenic ✓ 해석 →
G100D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G100S Pathogenic/Likely pathogenic 0.907 pathogenic ✓ 해석 →
G100V Likely pathogenic 0.961 pathogenic ✓ 해석 →
G1012R Pathogenic 0.978 pathogenic ✓ 해석 →
G1012S Pathogenic/Likely pathogenic 0.656 pathogenic ✓ 해석 →
G1015E Pathogenic 0.992 pathogenic ✓ 해석 →
G1024R Pathogenic/Likely pathogenic 0.991 pathogenic ✓ 해석 →
G1027E Pathogenic 0.992 pathogenic ✓ 해석 →
G1027R Pathogenic 0.978 pathogenic ✓ 해석 →
G1030A Pathogenic 0.798 pathogenic ✓ 해석 →
G1030D Uncertain significance 0.988 pathogenic 해석 →
G1030S Pathogenic 0.822 pathogenic ✓ 해석 →
G1036C Likely pathogenic 0.939 pathogenic ✓ 해석 →
G1036R Pathogenic 0.983 pathogenic ✓ 해석 →
G1036V Pathogenic 0.938 pathogenic ✓ 해석 →
G1039D Likely pathogenic 0.987 pathogenic ✓ 해석 →
G1039V Likely pathogenic 0.967 pathogenic ✓ 해석 →
G103D Likely pathogenic 0.993 pathogenic ✓ 해석 →
G1042S Pathogenic 0.789 pathogenic ✓ 해석 →
G1045D Likely pathogenic 0.990 pathogenic ✓ 해석 →
G1045S Likely pathogenic 0.670 pathogenic ✓ 해석 →
G1048D Pathogenic 0.994 pathogenic ✓ 해석 →
G1048S Likely pathogenic 0.797 pathogenic ✓ 해석 →
G1051A Likely pathogenic 0.840 pathogenic ✓ 해석 →
G1054S Likely pathogenic 0.930 pathogenic ✓ 해석 →
G1054V Likely pathogenic 0.968 pathogenic ✓ 해석 →
G1057D Pathogenic 0.998 pathogenic ✓ 해석 →
G1066S Pathogenic/Likely pathogenic 0.733 pathogenic ✓ 해석 →
G1066V Pathogenic 0.972 pathogenic ✓ 해석 →
G106E Likely pathogenic 0.980 pathogenic ✓ 해석 →
G1072V Likely pathogenic 0.950 pathogenic ✓ 해석 →
G1078D Pathogenic 0.991 pathogenic ✓ 해석 →
G1078V Likely pathogenic 0.938 pathogenic ✓ 해석 →
G1084C Pathogenic/Likely pathogenic 0.967 pathogenic ✓ 해석 →
G1084D Pathogenic 0.983 pathogenic ✓ 해석 →
G1087D Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
G1087V Likely pathogenic 0.943 pathogenic ✓ 해석 →
G1090D Pathogenic 0.995 pathogenic ✓ 해석 →
G1090S Likely pathogenic 0.759 pathogenic ✓ 해석 →
G1093A Pathogenic 0.682 pathogenic ✓ 해석 →
G1093C Pathogenic/Likely pathogenic 0.943 pathogenic ✓ 해석 →
G1093D Pathogenic 0.995 pathogenic ✓ 해석 →
G1093R Pathogenic 0.993 pathogenic ✓ 해석 →
G1093S Pathogenic 0.750 pathogenic ✓ 해석 →
G1096A Pathogenic 0.708 pathogenic ✓ 해석 →
G1096D Pathogenic 0.996 pathogenic ✓ 해석 →
G1096S Pathogenic 0.785 pathogenic ✓ 해석 →
G1099R Pathogenic 0.981 pathogenic ✓ 해석 →
G109D Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
G109R Likely pathogenic 0.985 pathogenic ✓ 해석 →
G109S Likely pathogenic 0.749 pathogenic ✓ 해석 →
G109V Likely pathogenic 0.933 pathogenic ✓ 해석 →
G1102A Pathogenic/Likely pathogenic 0.337 benign ⚠ 해석 →
G1102C Pathogenic 0.783 pathogenic ✓ 해석 →
G1102D Pathogenic 0.922 pathogenic ✓ 해석 →
G1102S Pathogenic 0.346 ambiguous 해석 →
G1102V Pathogenic 0.693 pathogenic ✓ 해석 →
G112D Pathogenic 0.990 pathogenic ✓ 해석 →
G112S Likely pathogenic 0.780 pathogenic ✓ 해석 →
G112V Pathogenic 0.951 pathogenic ✓ 해석 →
G115R Pathogenic 0.989 pathogenic ✓ 해석 →
G118D Pathogenic 0.994 pathogenic ✓ 해석 →
G118S Likely pathogenic 0.737 pathogenic ✓ 해석 →
G118V Pathogenic 0.956 pathogenic ✓ 해석 →
G121D Pathogenic 0.995 pathogenic ✓ 해석 →
G124D Pathogenic 0.996 pathogenic ✓ 해석 →
G127D Pathogenic 0.994 pathogenic ✓ 해석 →
G130D Pathogenic 0.993 pathogenic ✓ 해석 →
G130V Pathogenic/Likely pathogenic 0.924 pathogenic ✓ 해석 →
G133V Likely pathogenic 0.958 pathogenic ✓ 해석 →
G1361V Likely pathogenic 0.880 pathogenic ✓ 해석 →
G136D Pathogenic 0.995 pathogenic ✓ 해석 →
G142S Likely pathogenic 0.807 pathogenic ✓ 해석 →
G145D Pathogenic 0.995 pathogenic ✓ 해석 →
G151R Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
G160R Pathogenic 0.992 pathogenic ✓ 해석 →
G160R Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
G163S Conflicting classifications of pathogeni 0.930 pathogenic 해석 →
G163V Likely pathogenic 0.977 pathogenic ✓ 해석 →
G166V Pathogenic 0.988 pathogenic ✓ 해석 →
G169E Likely pathogenic 0.999 pathogenic ✓ 해석 →
G169R Likely pathogenic 0.997 pathogenic ✓ 해석 →
G172V Likely pathogenic 0.989 pathogenic ✓ 해석 →
G175D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G181E Pathogenic 0.998 pathogenic ✓ 해석 →
G181R Likely pathogenic 0.995 pathogenic ✓ 해석 →
G184D Likely pathogenic 0.997 pathogenic ✓ 해석 →
G187E Pathogenic 0.996 pathogenic ✓ 해석 →
G187V Pathogenic 0.972 pathogenic ✓ 해석 →
G190E Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
G190R Pathogenic 0.994 pathogenic ✓ 해석 →
G190V Pathogenic 0.975 pathogenic ✓ 해석 →
G193C Pathogenic 0.983 pathogenic ✓ 해석 →
G193R Pathogenic 0.993 pathogenic ✓ 해석 →
G193S Pathogenic 0.834 pathogenic ✓ 해석 →
G196C Pathogenic 0.980 pathogenic ✓ 해석 →
G196D Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
G196R Pathogenic 0.992 pathogenic ✓ 해석 →
G196S Pathogenic 0.815 pathogenic ✓ 해석 →
G196V Pathogenic 0.970 pathogenic ✓ 해석 →
G199D Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
G199R Pathogenic 0.997 pathogenic ✓ 해석 →
G202D Pathogenic 0.997 pathogenic ✓ 해석 →
G202R Pathogenic 0.994 pathogenic ✓ 해석 →
G202S Likely pathogenic 0.848 pathogenic ✓ 해석 →
G202V Likely pathogenic 0.977 pathogenic ✓ 해석 →
G205A Likely pathogenic 0.833 pathogenic ✓ 해석 →
G205D Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G211D Pathogenic 0.998 pathogenic ✓ 해석 →
G217E Pathogenic 0.997 pathogenic ✓ 해석 →
G220D Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G226D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G229D Pathogenic 0.997 pathogenic ✓ 해석 →
G229S Likely pathogenic 0.793 pathogenic ✓ 해석 →
G235D Likely pathogenic 0.997 pathogenic ✓ 해석 →
G235S Likely pathogenic 0.917 pathogenic ✓ 해석 →
G238R Likely pathogenic 0.992 pathogenic ✓ 해석 →
G238V Likely pathogenic 0.987 pathogenic ✓ 해석 →
G244D Pathogenic 0.998 pathogenic ✓ 해석 →
G244S Likely pathogenic 0.907 pathogenic ✓ 해석 →
G244V Likely pathogenic 0.979 pathogenic ✓ 해석 →
G247C Pathogenic/Likely pathogenic 0.981 pathogenic ✓ 해석 →
G247D Pathogenic 0.998 pathogenic ✓ 해석 →
G247R Pathogenic 0.996 pathogenic ✓ 해석 →
G247S Pathogenic/Likely pathogenic 0.901 pathogenic ✓ 해석 →
G250V Likely pathogenic 0.983 pathogenic ✓ 해석 →
G253D Pathogenic 0.998 pathogenic ✓ 해석 →
G253V Pathogenic 0.974 pathogenic ✓ 해석 →
G256D Pathogenic 0.999 pathogenic ✓ 해석 →
G256S Pathogenic 0.878 pathogenic ✓ 해석 →
G256V Pathogenic 0.980 pathogenic ✓ 해석 →
G259A Conflicting classifications of pathogeni 0.836 pathogenic 해석 →
G259C Pathogenic 0.988 pathogenic ✓ 해석 →
G259D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G259S Pathogenic/Likely pathogenic 0.897 pathogenic ✓ 해석 →
G259V Likely pathogenic 0.986 pathogenic ✓ 해석 →
G262D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G262R Likely pathogenic 0.997 pathogenic ✓ 해석 →
G265D Pathogenic 0.998 pathogenic ✓ 해석 →
G265R Pathogenic 0.997 pathogenic ✓ 해석 →
G265S Pathogenic 0.953 pathogenic ✓ 해석 →
G265V Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
G268E Pathogenic 0.997 pathogenic ✓ 해석 →
G268R Likely pathogenic 0.994 pathogenic ✓ 해석 →
G271D Pathogenic 0.997 pathogenic ✓ 해석 →
G271R Pathogenic 0.995 pathogenic ✓ 해석 →
G274D Pathogenic 0.997 pathogenic ✓ 해석 →
G274R Pathogenic 0.992 pathogenic ✓ 해석 →
G277A Pathogenic 0.722 pathogenic ✓ 해석 →
G277V Pathogenic 0.955 pathogenic ✓ 해석 →
G280A Pathogenic 0.825 pathogenic ✓ 해석 →
G280C Pathogenic/Likely pathogenic 0.981 pathogenic ✓ 해석 →
G280S Pathogenic 0.850 pathogenic ✓ 해석 →
G283C Pathogenic 0.989 pathogenic ✓ 해석 →
G283S Pathogenic 0.923 pathogenic ✓ 해석 →
G286A Pathogenic/Likely pathogenic 0.759 pathogenic ✓ 해석 →
G286C Pathogenic 0.952 pathogenic ✓ 해석 →
G286S Pathogenic 0.760 pathogenic ✓ 해석 →
G289A Conflicting classifications of pathogeni 0.661 pathogenic 해석 →
G289D Pathogenic 0.995 pathogenic ✓ 해석 →
G292A Likely pathogenic 0.819 pathogenic ✓ 해석 →
G292C Pathogenic/Likely pathogenic 0.962 pathogenic ✓ 해석 →
G292D Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
G292R Pathogenic 0.992 pathogenic ✓ 해석 →
G292S Pathogenic 0.813 pathogenic ✓ 해석 →
G292V Pathogenic 0.971 pathogenic ✓ 해석 →
G298C Pathogenic 0.988 pathogenic ✓ 해석 →
G298S Pathogenic/Likely pathogenic 0.870 pathogenic ✓ 해석 →
G298V Pathogenic 0.989 pathogenic ✓ 해석 →
G301E Pathogenic 0.996 pathogenic ✓ 해석 →
G301R Pathogenic 0.989 pathogenic ✓ 해석 →
G304D Likely pathogenic 0.995 pathogenic ✓ 해석 →
G304S Pathogenic/Likely pathogenic 0.746 pathogenic ✓ 해석 →
G304V Pathogenic 0.971 pathogenic ✓ 해석 →
G307D Pathogenic 0.995 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.