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

NF1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
132
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
8
⚠ CV=양성 / AM=병원성
0
— AM 미적재
360
AM ↔ ClinVar 비교 가능 변이 140건 중 132건 일치 / 8건 불일치 — 일치도 94.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1071P Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
A1071V Conflicting classifications of pathogeni 0.621 pathogenic 해석 →
A1148E Pathogenic 1.000 pathogenic ✓ 해석 →
A1148P Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
A1155D Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
A1197T Conflicting classifications of pathogeni 0.868 pathogenic 해석 →
A1197V Conflicting classifications of pathogeni 0.959 pathogenic 해석 →
A138P Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
A1450S Conflicting classifications of pathogeni 0.724 pathogenic 해석 →
A1450T Conflicting classifications of pathogeni 0.983 pathogenic 해석 →
A1540E Conflicting classifications of pathogeni 0.964 pathogenic 해석 →
A1540P Pathogenic 0.999 pathogenic ✓ 해석 →
A1596P Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
A1610E Likely pathogenic 0.996 pathogenic ✓ 해석 →
A1610I Likely pathogenic 0.953 pathogenic ✓ 해석 →
A1732P Conflicting classifications of pathogeni 0.820 pathogenic 해석 →
A1743P Uncertain significance 0.991 pathogenic 해석 →
A2037T Conflicting classifications of pathogeni 0.843 pathogenic 해석 →
A2208G Conflicting classifications of pathogeni 0.717 pathogenic 해석 →
A2274S Pathogenic 0.174 benign ⚠ 해석 →
A2389P Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
A2440V Pathogenic 0.494 ambiguous 해석 →
A2441T Likely pathogenic 0.644 pathogenic ✓ 해석 →
A246E Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
A2737D Likely pathogenic 0.874 pathogenic ✓ 해석 →
A320D Likely pathogenic 1.000 pathogenic ✓ 해석 →
A320P Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A323D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
A330P Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A330V Pathogenic/Likely pathogenic 0.832 pathogenic ✓ 해석 →
A545E Likely pathogenic 0.996 pathogenic ✓ 해석 →
A545P Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A548P Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A548S Conflicting classifications of pathogeni 0.537 ambiguous 해석 →
A617* Pathogenic — 미적재 해석 →
A706V Conflicting classifications of pathogeni 0.867 pathogenic 해석 →
A846D Pathogenic 0.999 pathogenic ✓ 해석 →
A846P Pathogenic 0.998 pathogenic ✓ 해석 →
C1016* Pathogenic — 미적재 해석 →
C1016F Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
C1016R Pathogenic 1.000 pathogenic ✓ 해석 →
C1016W Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1016Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1032* Pathogenic — 미적재 해석 →
C1063* Pathogenic — 미적재 해석 →
C1063* Pathogenic — 미적재 해석 →
C1117* Pathogenic — 미적재 해석 →
C1144* Pathogenic/Likely pathogenic — 미적재 해석 →
C118* Pathogenic — 미적재 해석 →
C124* Pathogenic — 미적재 해석 →
C1288* Pathogenic/Likely pathogenic — 미적재 해석 →
C1367* Pathogenic — 미적재 해석 →
C1367R Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
C147* Pathogenic — 미적재 해석 →
C1486* Pathogenic — 미적재 해석 →
C167* Pathogenic — 미적재 해석 →
C1682* Pathogenic — 미적재 해석 →
C1682R Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
C1711* Pathogenic — 미적재 해석 →
C1792* Pathogenic/Likely pathogenic — 미적재 해석 →
C1817* Pathogenic — 미적재 해석 →
C1899* Pathogenic — 미적재 해석 →
C1930* Pathogenic — 미적재 해석 →
C1930R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1945* Pathogenic — 미적재 해석 →
C1960* Pathogenic — 미적재 해석 →
C2055* Pathogenic — 미적재 해석 →
C2062* Pathogenic — 미적재 해석 →
C2134* Pathogenic — 미적재 해석 →
C2216* Pathogenic — 미적재 해석 →
C2223* Pathogenic/Likely pathogenic — 미적재 해석 →
C2254* Pathogenic — 미적재 해석 →
C2278* Pathogenic — 미적재 해석 →
C2278* Pathogenic — 미적재 해석 →
C2371* Pathogenic — 미적재 해석 →
C2426* Pathogenic — 미적재 해석 →
C2453* Pathogenic — 미적재 해석 →
C2672* Pathogenic — 미적재 해석 →
C277* Pathogenic — 미적재 해석 →
C324* Pathogenic/Likely pathogenic — 미적재 해석 →
C324R Likely pathogenic 0.997 pathogenic ✓ 해석 →
C328* Pathogenic — 미적재 해석 →
C379R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C383* Pathogenic — 미적재 해석 →
C42* Pathogenic — 미적재 해석 →
C434* Pathogenic — 미적재 해석 →
C454* Pathogenic — 미적재 해석 →
C582* Pathogenic — 미적재 해석 →
C582F Likely pathogenic 0.984 pathogenic ✓ 해석 →
C606* Pathogenic — 미적재 해석 →
C622* Pathogenic — 미적재 해석 →
C673* Pathogenic — 미적재 해석 →
C680* Pathogenic — 미적재 해석 →
C709* Pathogenic — 미적재 해석 →
C709R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C714* Pathogenic — 미적재 해석 →
C721* Pathogenic/Likely pathogenic — 미적재 해석 →
C845* Pathogenic — 미적재 해석 →
C845R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C845Y Pathogenic 0.996 pathogenic ✓ 해석 →
C851* Pathogenic — 미적재 해석 →
C904S Pathogenic/Likely pathogenic 0.757 pathogenic ✓ 해석 →
C93* Pathogenic — 미적재 해석 →
C93R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C93W Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C93Y Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
D1060E Conflicting classifications of pathogeni 0.213 benign 해석 →
D1217E Likely pathogenic 0.408 ambiguous 해석 →
D1217G Pathogenic 0.855 pathogenic ✓ 해석 →
D1217N Likely pathogenic 0.610 pathogenic ✓ 해석 →
D1217V Likely pathogenic 0.907 pathogenic ✓ 해석 →
D1217Y Pathogenic 0.929 pathogenic ✓ 해석 →
D1313* Pathogenic — 미적재 해석 →
D1501* Pathogenic — 미적재 해석 →
D1537* Pathogenic — 미적재 해석 →
D1621* Pathogenic — 미적재 해석 →
D1644A Pathogenic 0.998 pathogenic ✓ 해석 →
D1644G Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
D1644H Likely pathogenic 0.999 pathogenic ✓ 해석 →
D1644N Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
D1644V Likely pathogenic 0.998 pathogenic ✓ 해석 →
D1644Y Likely pathogenic 0.999 pathogenic ✓ 해석 →
D1837N Conflicting classifications of pathogeni 0.376 ambiguous 해석 →
D1849G Conflicting classifications of pathogeni 0.989 pathogenic 해석 →
D1849N Pathogenic 0.908 pathogenic ✓ 해석 →
D1849V Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
D1849Y Pathogenic 0.968 pathogenic ✓ 해석 →
D1866* Likely pathogenic — 미적재 해석 →
D186V Likely pathogenic 0.990 pathogenic ✓ 해석 →
D186Y Conflicting classifications of pathogeni 0.987 pathogenic 해석 →
D2008A Likely pathogenic 0.866 pathogenic ✓ 해석 →
D2008G Conflicting classifications of pathogeni 0.817 pathogenic 해석 →
D2008H Pathogenic/Likely pathogenic 0.929 pathogenic ✓ 해석 →
D2008V Conflicting classifications of pathogeni 0.949 pathogenic 해석 →
D2008Y Pathogenic 0.919 pathogenic ✓ 해석 →
D2346* Pathogenic — 미적재 해석 →
D251* Pathogenic — 미적재 해석 →
D2632G Pathogenic/Likely pathogenic 0.478 ambiguous 해석 →
D338G Pathogenic/Likely pathogenic 0.843 pathogenic ✓ 해석 →
D338N Pathogenic 0.566 pathogenic ✓ 해석 →
D378* Pathogenic — 미적재 해석 →
D633* Pathogenic — 미적재 해석 →
D830* Pathogenic — 미적재 해석 →
D946* Pathogenic — 미적재 해석 →
D955* Pathogenic — 미적재 해석 →
E1020* Pathogenic/Likely pathogenic — 미적재 해석 →
E1034* Pathogenic — 미적재 해석 →
E1043* Pathogenic — 미적재 해석 →
E106* Pathogenic — 미적재 해석 →
E1074* Pathogenic — 미적재 해석 →
E1088* Pathogenic — 미적재 해석 →
E1088* Pathogenic — 미적재 해석 →
E1094* Pathogenic — 미적재 해석 →
E1119* Pathogenic — 미적재 해석 →
E1121* Pathogenic — 미적재 해석 →
E1123* Pathogenic — 미적재 해석 →
E116* Pathogenic — 미적재 해석 →
E1192* Pathogenic — 미적재 해석 →
E1192* Pathogenic — 미적재 해석 →
E1198* Likely pathogenic — 미적재 해석 →
E1206* Pathogenic — 미적재 해석 →
E1210* Pathogenic — 미적재 해석 →
E1238* Pathogenic — 미적재 해석 →
E126* Pathogenic — 미적재 해석 →
E1264* Pathogenic — 미적재 해석 →
E1264K Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
E1266* Pathogenic — 미적재 해석 →
E1320* Pathogenic — 미적재 해석 →
E133* Pathogenic — 미적재 해석 →
E1333* Pathogenic — 미적재 해석 →
E1334* Pathogenic — 미적재 해석 →
E1344* Pathogenic — 미적재 해석 →
E1356* Pathogenic — 미적재 해석 →
E1423* Pathogenic — 미적재 해석 →
E1436* Pathogenic — 미적재 해석 →
E1458* Pathogenic — 미적재 해석 →
E1458D Pathogenic 0.996 pathogenic ✓ 해석 →
E1458G Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
E1458K Pathogenic 0.998 pathogenic ✓ 해석 →
E1458V Likely pathogenic 0.999 pathogenic ✓ 해석 →
E1459* Pathogenic — 미적재 해석 →
E1516* Pathogenic — 미적재 해석 →
E1550* Pathogenic/Likely pathogenic — 미적재 해석 →
E1570* Pathogenic — 미적재 해석 →
E1571* Pathogenic — 미적재 해석 →
E1580* Pathogenic/Likely pathogenic — 미적재 해석 →
E1582* Pathogenic — 미적재 해석 →
E1583* Pathogenic — 미적재 해석 →
E163* Pathogenic — 미적재 해석 →
E1688* Pathogenic — 미적재 해석 →
E1694* Pathogenic — 미적재 해석 →
E1717* Pathogenic — 미적재 해석 →
E1720* Pathogenic — 미적재 해석 →
E1734* Pathogenic — 미적재 해석 →
E1735* Pathogenic — 미적재 해석 →
E1768* Pathogenic — 미적재 해석 →
E178* Pathogenic — 미적재 해석 →
E1787* Pathogenic — 미적재 해석 →
E1789* Pathogenic — 미적재 해석 →
E1790* Pathogenic — 미적재 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.