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

COL1A1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
423
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
0
— AM 미적재
75
AM ↔ ClinVar 비교 가능 변이 425건 중 423건 일치 / 2건 불일치 — 일치도 99.5%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1218P Pathogenic 0.880 pathogenic ✓ 해석 →
A1218T Pathogenic 0.567 pathogenic ✓ 해석 →
A1218V Pathogenic/Likely pathogenic 0.609 pathogenic ✓ 해석 →
A1256T Conflicting classifications of pathogeni 0.650 pathogenic 해석 →
A1387T Pathogenic/Likely pathogenic 0.836 pathogenic ✓ 해석 →
A1387V Pathogenic 0.958 pathogenic ✓ 해석 →
A1443V Pathogenic/Likely pathogenic 0.918 pathogenic ✓ 해석 →
A327* Pathogenic — 미적재 해석 →
A331V Conflicting classifications of pathogeni 0.142 benign 해석 →
A348T Conflicting classifications of pathogeni 0.084 benign 해석 →
C1291* Pathogenic — 미적재 해석 →
C1291G Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1299* Pathogenic — 미적재 해석 →
C1299W Pathogenic 0.997 pathogenic ✓ 해석 →
C1370* Pathogenic — 미적재 해석 →
C1415* Pathogenic/Likely pathogenic — 미적재 해석 →
C40* Pathogenic — 미적재 해석 →
C61W Pathogenic 0.999 pathogenic ✓ 해석 →
C61Y Pathogenic 0.999 pathogenic ✓ 해석 →
C63* Pathogenic — 미적재 해석 →
C70* Pathogenic — 미적재 해석 →
C70R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C81* Pathogenic — 미적재 해석 →
C92* Pathogenic — 미적재 해석 →
C95* Likely pathogenic — 미적재 해석 →
D1219G Pathogenic/Likely pathogenic 0.974 pathogenic ✓ 해석 →
D1219N Pathogenic 0.895 pathogenic ✓ 해석 →
D1285E Pathogenic 0.995 pathogenic ✓ 해석 →
D1285G Likely pathogenic 0.992 pathogenic ✓ 해석 →
D1413E Uncertain significance 0.977 pathogenic 해석 →
D1413G Pathogenic 0.980 pathogenic ✓ 해석 →
D1413N Pathogenic/Likely pathogenic 0.881 pathogenic ✓ 해석 →
D1441H Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
D1441N Conflicting classifications of pathogeni 0.942 pathogenic 해석 →
D1441Y Pathogenic 0.989 pathogenic ✓ 해석 →
D1446N Likely pathogenic 0.944 pathogenic ✓ 해석 →
E100* Likely pathogenic — 미적재 해석 →
E1021* Pathogenic — 미적재 해석 →
E1038* Pathogenic — 미적재 해석 →
E106* Pathogenic — 미적재 해석 →
E1101* Pathogenic — 미적재 해석 →
E111* Pathogenic — 미적재 해석 →
E1230K Conflicting classifications of pathogeni 0.885 pathogenic 해석 →
E1273* Pathogenic/Likely pathogenic — 미적재 해석 →
E1297* Pathogenic — 미적재 해석 →
E1361* Pathogenic — 미적재 해석 →
E1395* Likely pathogenic — 미적재 해석 →
E1397* Pathogenic — 미적재 해석 →
E1401* Likely pathogenic — 미적재 해석 →
E210* Pathogenic — 미적재 해석 →
E234* Pathogenic — 미적재 해석 →
E243* Pathogenic — 미적재 해석 →
E25* Pathogenic — 미적재 해석 →
E288* Pathogenic — 미적재 해석 →
E294* Pathogenic — 미적재 해석 →
E309* Pathogenic — 미적재 해석 →
E354* Pathogenic — 미적재 해석 →
E465* Pathogenic — 미적재 해석 →
E486* Pathogenic — 미적재 해석 →
E591* Pathogenic — 미적재 해석 →
E597* Pathogenic — 미적재 해석 →
E615* Pathogenic — 미적재 해석 →
E660* Pathogenic — 미적재 해석 →
E678* Pathogenic/Likely pathogenic — 미적재 해석 →
E678K Pathogenic 0.941 pathogenic ✓ 해석 →
E77* Pathogenic — 미적재 해석 →
E828* Pathogenic — 미적재 해석 →
E88* Pathogenic — 미적재 해석 →
E90* Pathogenic — 미적재 해석 →
E904* Pathogenic — 미적재 해석 →
F1326C Pathogenic 0.987 pathogenic ✓ 해석 →
G1001S Likely pathogenic 0.963 pathogenic ✓ 해석 →
G1004E Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1010S Likely pathogenic 0.924 pathogenic ✓ 해석 →
G1013A Likely pathogenic 0.865 pathogenic ✓ 해석 →
G1016E Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1016R Pathogenic 0.995 pathogenic ✓ 해석 →
G1019A Pathogenic 0.692 pathogenic ✓ 해석 →
G1019C Pathogenic 0.972 pathogenic ✓ 해석 →
G1022A Pathogenic 0.778 pathogenic ✓ 해석 →
G1022C Pathogenic 0.996 pathogenic ✓ 해석 →
G1022S Pathogenic 0.952 pathogenic ✓ 해석 →
G1022V Pathogenic/Likely pathogenic 0.962 pathogenic ✓ 해석 →
G1025R Pathogenic 0.996 pathogenic ✓ 해석 →
G1028S Pathogenic 0.886 pathogenic ✓ 해석 →
G1031D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1031S Likely pathogenic 0.811 pathogenic ✓ 해석 →
G1040A Likely pathogenic 0.745 pathogenic ✓ 해석 →
G1040R Likely pathogenic 0.991 pathogenic ✓ 해석 →
G1040S Pathogenic 0.763 pathogenic ✓ 해석 →
G1043A Likely pathogenic 0.642 pathogenic ✓ 해석 →
G1043R Likely pathogenic 0.990 pathogenic ✓ 해석 →
G1046C Pathogenic 0.979 pathogenic ✓ 해석 →
G1049S Likely pathogenic 0.835 pathogenic ✓ 해석 →
G1052A Pathogenic 0.738 pathogenic ✓ 해석 →
G1055D Pathogenic 0.998 pathogenic ✓ 해석 →
G1058S Pathogenic 0.882 pathogenic ✓ 해석 →
G1061A Likely pathogenic 0.701 pathogenic ✓ 해석 →
G1061D Pathogenic 0.996 pathogenic ✓ 해석 →
G1061V Likely pathogenic 0.966 pathogenic ✓ 해석 →
G1070D Likely pathogenic 0.993 pathogenic ✓ 해석 →
G1070S Pathogenic 0.760 pathogenic ✓ 해석 →
G1076D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1076R Pathogenic 0.991 pathogenic ✓ 해석 →
G1076S Pathogenic/Likely pathogenic 0.749 pathogenic ✓ 해석 →
G1079S Pathogenic 0.801 pathogenic ✓ 해석 →
G1082C Pathogenic 0.948 pathogenic ✓ 해석 →
G1082S Pathogenic 0.741 pathogenic ✓ 해석 →
G1088* Pathogenic — 미적재 해석 →
G1091S Pathogenic 0.873 pathogenic ✓ 해석 →
G1094A Likely pathogenic 0.865 pathogenic ✓ 해석 →
G1097R Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1106C Pathogenic 0.983 pathogenic ✓ 해석 →
G1112V Likely pathogenic 0.990 pathogenic ✓ 해석 →
G112* Pathogenic — 미적재 해석 →
G1124D Likely pathogenic 0.991 pathogenic ✓ 해석 →
G1127C Pathogenic 0.964 pathogenic ✓ 해석 →
G1127R Likely pathogenic 0.984 pathogenic ✓ 해석 →
G1130D Likely pathogenic 0.994 pathogenic ✓ 해석 →
G1133E Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1136A Likely pathogenic 0.769 pathogenic ✓ 해석 →
G1136S Pathogenic 0.795 pathogenic ✓ 해석 →
G1139D Pathogenic 0.998 pathogenic ✓ 해석 →
G1139S Pathogenic 0.909 pathogenic ✓ 해석 →
G1142V Pathogenic 0.983 pathogenic ✓ 해석 →
G1145A Likely pathogenic 0.836 pathogenic ✓ 해석 →
G1145S Pathogenic 0.878 pathogenic ✓ 해석 →
G1145V Likely pathogenic 0.986 pathogenic ✓ 해석 →
G1148D Pathogenic 0.991 pathogenic ✓ 해석 →
G1151S Pathogenic 0.767 pathogenic ✓ 해석 →
G1151V Pathogenic 0.975 pathogenic ✓ 해석 →
G1154* Pathogenic — 미적재 해석 →
G1157D Pathogenic 0.999 pathogenic ✓ 해석 →
G1157R Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1157S Likely pathogenic 0.912 pathogenic ✓ 해석 →
G1160D Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1163R Pathogenic 0.998 pathogenic ✓ 해석 →
G1166C Pathogenic 0.990 pathogenic ✓ 해석 →
G1166S Pathogenic 0.959 pathogenic ✓ 해석 →
G1169C Pathogenic 0.994 pathogenic ✓ 해석 →
G1169S Pathogenic/Likely pathogenic 0.950 pathogenic ✓ 해석 →
G1169V Likely pathogenic 0.995 pathogenic ✓ 해석 →
G1178D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1178S Pathogenic 0.888 pathogenic ✓ 해석 →
G1181S Pathogenic/Likely pathogenic 0.900 pathogenic ✓ 해석 →
G1184R Pathogenic 0.997 pathogenic ✓ 해석 →
G1184V Pathogenic 0.978 pathogenic ✓ 해석 →
G1187C Likely pathogenic 0.971 pathogenic ✓ 해석 →
G1187S Pathogenic 0.865 pathogenic ✓ 해석 →
G1190D Pathogenic 0.993 pathogenic ✓ 해석 →
G1195C Uncertain significance 0.502 ambiguous 해석 →
G1272* Pathogenic — 미적재 해석 →
G1272V Pathogenic/Likely pathogenic 0.894 pathogenic ✓ 해석 →
G1281V Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
G130C Likely pathogenic 0.984 pathogenic ✓ 해석 →
G139* Pathogenic — 미적재 해석 →
G142* Pathogenic — 미적재 해석 →
G142E Pathogenic 0.982 pathogenic ✓ 해석 →
G142R Conflicting classifications of pathogeni 0.977 pathogenic 해석 →
G1448D Pathogenic 0.927 pathogenic ✓ 해석 →
G1448R Likely pathogenic 0.957 pathogenic ✓ 해석 →
G145* Pathogenic — 미적재 해석 →
G1455V Likely pathogenic 0.913 pathogenic ✓ 해석 →
G173* Pathogenic/Likely pathogenic — 미적재 해석 →
G182C Likely pathogenic 0.979 pathogenic ✓ 해석 →
G182V Likely pathogenic 0.928 pathogenic ✓ 해석 →
G188C Likely pathogenic 0.978 pathogenic ✓ 해석 →
G188D Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
G188S Likely pathogenic 0.891 pathogenic ✓ 해석 →
G191A Likely pathogenic 0.840 pathogenic ✓ 해석 →
G191D Pathogenic 0.997 pathogenic ✓ 해석 →
G191S Pathogenic 0.882 pathogenic ✓ 해석 →
G191V Likely pathogenic 0.963 pathogenic ✓ 해석 →
G194C Pathogenic 0.952 pathogenic ✓ 해석 →
G194D Pathogenic 0.996 pathogenic ✓ 해석 →
G194R Pathogenic 0.993 pathogenic ✓ 해석 →
G194V Pathogenic 0.950 pathogenic ✓ 해석 →
G197A Pathogenic 0.755 pathogenic ✓ 해석 →
G197C Pathogenic 0.988 pathogenic ✓ 해석 →
G197D Pathogenic 0.996 pathogenic ✓ 해석 →
G197R Pathogenic 0.992 pathogenic ✓ 해석 →
G197V Pathogenic/Likely pathogenic 0.973 pathogenic ✓ 해석 →
G200D Pathogenic 0.993 pathogenic ✓ 해석 →
G200S Pathogenic/Likely pathogenic 0.812 pathogenic ✓ 해석 →
G200V Pathogenic/Likely pathogenic 0.951 pathogenic ✓ 해석 →
G203A Likely pathogenic 0.760 pathogenic ✓ 해석 →
G203D Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
G203R Pathogenic 0.995 pathogenic ✓ 해석 →
G203S Pathogenic 0.821 pathogenic ✓ 해석 →
G203V Pathogenic 0.943 pathogenic ✓ 해석 →
G206R Pathogenic 0.985 pathogenic ✓ 해석 →
G206V Likely pathogenic 0.979 pathogenic ✓ 해석 →
G209A Likely pathogenic 0.778 pathogenic ✓ 해석 →
G209D Pathogenic 0.996 pathogenic ✓ 해석 →
G209S Likely pathogenic 0.809 pathogenic ✓ 해석 →
G212D Likely pathogenic 0.994 pathogenic ✓ 해석 →
G212E Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
G212R Pathogenic 0.988 pathogenic ✓ 해석 →
G215D Likely pathogenic 0.995 pathogenic ✓ 해석 →
G215S Likely pathogenic 0.738 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.