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

COL5A1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
34
✓ 둘 다 양성
38
⚠ CV=병원성 / AM=양성
4
⚠ CV=양성 / AM=병원성
13
— AM 미적재
411
AM ↔ ClinVar 비교 가능 변이 89건 중 72건 일치 / 17건 불일치 — 일치도 80.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1086V Conflicting classifications of pathogeni 0.121 benign 해석 →
A1356V Conflicting classifications of pathogeni 0.094 benign 해석 →
A37P Pathogenic 0.217 benign ⚠ 해석 →
C1639S Pathogenic 0.999 pathogenic ✓ 해석 →
C1639Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1671Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1680R Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1746S Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C1835G Likely pathogenic 0.990 pathogenic ✓ 해석 →
C1835S Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
D1331N Conflicting classifications of pathogeni 0.514 ambiguous 해석 →
E1013* Pathogenic — 미적재 해석 →
E1091* Pathogenic — 미적재 해석 →
E1292K Pathogenic/Likely pathogenic 0.373 ambiguous 해석 →
E1401* Pathogenic — 미적재 해석 →
E1719* Pathogenic — 미적재 해석 →
E215* Pathogenic — 미적재 해석 →
E289* Pathogenic — 미적재 해석 →
E302* Pathogenic — 미적재 해석 →
E359* Pathogenic — 미적재 해석 →
E395* Pathogenic/Likely pathogenic — 미적재 해석 →
E403* Pathogenic — 미적재 해석 →
E809* Pathogenic — 미적재 해석 →
E830* Likely pathogenic — 미적재 해석 →
E98* Pathogenic — 미적재 해석 →
F1829C Likely pathogenic 0.986 pathogenic ✓ 해석 →
G1039D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1087* Likely pathogenic — 미적재 해석 →
G1114A Conflicting classifications of pathogeni 0.947 pathogenic 해석 →
G1117A Likely pathogenic 0.942 pathogenic ✓ 해석 →
G1138E Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1162R Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
G1168* Pathogenic — 미적재 해석 →
G1258* Pathogenic — 미적재 해석 →
G1261R Conflicting classifications of pathogeni 0.986 pathogenic 해석 →
G1270S Likely pathogenic 0.953 pathogenic ✓ 해석 →
G1372R Pathogenic 0.995 pathogenic ✓ 해석 →
G1378S Likely pathogenic 0.960 pathogenic ✓ 해석 →
G1426S Uncertain significance 0.934 pathogenic 해석 →
G1450R Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1453* Pathogenic — 미적재 해석 →
G1459S Conflicting classifications of pathogeni 0.925 pathogenic 해석 →
G1468R Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1477D Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1486S Likely pathogenic 0.963 pathogenic ✓ 해석 →
G1489E Uncertain significance 1.000 pathogenic 해석 →
G1489R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1492C Pathogenic 0.997 pathogenic ✓ 해석 →
G1492S Pathogenic/Likely pathogenic 0.985 pathogenic ✓ 해석 →
G203V Likely pathogenic 0.996 pathogenic ✓ 해석 →
G478A Likely pathogenic 0.770 pathogenic ✓ 해석 →
G478C Conflicting classifications of pathogeni 0.972 pathogenic 해석 →
G481R Likely pathogenic 0.996 pathogenic ✓ 해석 →
G499A Likely pathogenic 0.941 pathogenic ✓ 해석 →
G514S Conflicting classifications of pathogeni 0.934 pathogenic 해석 →
G637V Likely pathogenic 0.990 pathogenic ✓ 해석 →
G715* Pathogenic — 미적재 해석 →
G778C Conflicting classifications of pathogeni 0.976 pathogenic 해석 →
G793E Likely pathogenic 0.998 pathogenic ✓ 해석 →
G835A Likely pathogenic 0.917 pathogenic ✓ 해석 →
G838R Likely pathogenic 0.999 pathogenic ✓ 해석 →
G856S Likely pathogenic 0.840 pathogenic ✓ 해석 →
G874E Pathogenic 1.000 pathogenic ✓ 해석 →
G922V Likely pathogenic 0.990 pathogenic ✓ 해석 →
G940S Conflicting classifications of pathogeni 0.897 pathogenic 해석 →
G997S Conflicting classifications of pathogeni 0.953 pathogenic 해석 →
I1491F Likely pathogenic 0.852 pathogenic ✓ 해석 →
K1410N Likely pathogenic 0.971 pathogenic ✓ 해석 →
K929* Pathogenic — 미적재 해석 →
L25P Pathogenic 0.155 benign ⚠ 해석 →
L25R Pathogenic 0.265 benign ⚠ 해석 →
M1I Pathogenic 0.699 pathogenic ✓ 해석 →
M1R Pathogenic 0.405 ambiguous 해석 →
M1V Pathogenic 0.186 benign ⚠ 해석 →
P136S Conflicting classifications of pathogeni 0.811 pathogenic 해석 →
Q1110* Pathogenic — 미적재 해석 →
Q113* Pathogenic — 미적재 해석 →
Q1176* Likely pathogenic — 미적재 해석 →
Q1185* Pathogenic — 미적재 해석 →
Q1205* Pathogenic — 미적재 해석 →
Q1211* Pathogenic — 미적재 해석 →
Q1230* Likely pathogenic — 미적재 해석 →
Q1269* Pathogenic — 미적재 해석 →
Q127* Pathogenic — 미적재 해석 →
Q1428* Pathogenic — 미적재 해석 →
Q1497* Pathogenic — 미적재 해석 →
Q1509* Pathogenic — 미적재 해석 →
Q1643* Pathogenic — 미적재 해석 →
Q1740* Pathogenic — 미적재 해석 →
Q1753* Pathogenic — 미적재 해석 →
Q1796* Pathogenic/Likely pathogenic — 미적재 해석 →
Q1809* Pathogenic — 미적재 해석 →
Q1825* Conflicting classifications of pathogeni — 미적재 해석 →
Q253* Pathogenic — 미적재 해석 →
Q542* Pathogenic — 미적재 해석 →
Q545* Likely pathogenic — 미적재 해석 →
Q547* Pathogenic — 미적재 해석 →
Q552* Pathogenic — 미적재 해석 →
Q597* Pathogenic — 미적재 해석 →
Q714* Pathogenic/Likely pathogenic — 미적재 해석 →
Q722* Pathogenic — 미적재 해석 →
Q735* Likely pathogenic — 미적재 해석 →
Q783* Likely pathogenic — 미적재 해석 →
Q89* Pathogenic — 미적재 해석 →
Q911* Pathogenic — 미적재 해석 →
Q980* Pathogenic — 미적재 해석 →
Q987* Pathogenic — 미적재 해석 →
R1062* Pathogenic — 미적재 해석 →
R1133* Pathogenic — 미적재 해석 →
R1257* Pathogenic — 미적재 해석 →
R1440* Pathogenic/Likely pathogenic — 미적재 해석 →
R594* Pathogenic — 미적재 해석 →
R66* Pathogenic/Likely pathogenic — 미적재 해석 →
R792* Pathogenic — 미적재 해석 →
R912* Pathogenic — 미적재 해석 →
S1735N Conflicting classifications of pathogeni 0.918 pathogenic 해석 →
S254* Pathogenic — 미적재 해석 →
S544* Pathogenic — 미적재 해석 →
V172D Likely pathogenic 0.994 pathogenic ✓ 해석 →
W165* Pathogenic — 미적재 해석 →
W165* Pathogenic — 미적재 해석 →
W1695* Pathogenic — 미적재 해석 →
Y152* Pathogenic — 미적재 해석 →
Y1654* Pathogenic — 미적재 해석 →
Y1747* Pathogenic — 미적재 해석 →
Y1747* Likely pathogenic — 미적재 해석 →
Y236* Pathogenic — 미적재 해석 →
Y277* Pathogenic — 미적재 해석 →
Y340* Pathogenic — 미적재 해석 →
Y347* Pathogenic — 미적재 해석 →
Y91* Likely pathogenic — 미적재 해석 →
A1044T Conflicting classifications of pathogeni 0.077 benign 해석 →
A1044V Uncertain significance 0.084 benign 해석 →
A1070V Uncertain significance 0.111 benign 해석 →
A1095D Uncertain significance 0.777 pathogenic 해석 →
A1097V Uncertain significance 0.090 benign 해석 →
A1098S Uncertain significance 0.116 benign 해석 →
A1098T Conflicting classifications of pathogeni 0.145 benign 해석 →
A1116S Uncertain significance 0.136 benign 해석 →
A1121P Uncertain significance 0.313 benign 해석 →
A114D Likely benign 0.766 pathogenic ⚠ 해석 →
A114G Uncertain significance 0.173 benign 해석 →
A1262T Benign 0.079 benign ✓ 해석 →
A1290G Conflicting classifications of pathogeni 0.109 benign 해석 →
A1290T Conflicting classifications of pathogeni 0.082 benign 해석 →
A1290V Uncertain significance 0.127 benign 해석 →
A12E Uncertain significance 0.247 benign 해석 →
A12T Conflicting classifications of pathogeni 0.120 benign 해석 →
A1319D Likely benign 0.456 ambiguous 해석 →
A1320S Uncertain significance 0.084 benign 해석 →
A1356E Uncertain significance 0.262 benign 해석 →
A1356T Likely benign 0.089 benign ✓ 해석 →
A1398S Uncertain significance 0.081 benign 해석 →
A1398T Conflicting classifications of pathogeni 0.075 benign 해석 →
A1409T Uncertain significance 0.075 benign 해석 →
A1413D Uncertain significance 0.222 benign 해석 →
A1430D Likely benign 0.445 ambiguous 해석 →
A1430G Conflicting classifications of pathogeni 0.109 benign 해석 →
A1430T Uncertain significance 0.070 benign 해석 →
A1557T Uncertain significance 0.067 benign 해석 →
A1580V Benign 0.113 benign ✓ 해석 →
A1589T Conflicting classifications of pathogeni 0.275 benign 해석 →
A1605G Benign 0.123 benign ✓ 해석 →
A1605T Conflicting classifications of pathogeni 0.085 benign 해석 →
A1605V Likely benign 0.123 benign ✓ 해석 →
A1636T Conflicting classifications of pathogeni 0.779 pathogenic 해석 →
A1675D Uncertain significance 0.199 benign 해석 →
A1718T Benign 0.071 benign ✓ 해석 →
A1736T Conflicting classifications of pathogeni 0.164 benign 해석 →
A1755T Conflicting classifications of pathogeni 0.069 benign 해석 →
A1755V Uncertain significance 0.076 benign 해석 →
A1756G Uncertain significance 0.081 benign 해석 →
A1756T Conflicting classifications of pathogeni 0.060 benign 해석 →
A1763T Uncertain significance 0.715 pathogenic 해석 →
A1763V Uncertain significance 0.836 pathogenic 해석 →
A1784D Uncertain significance 0.820 pathogenic 해석 →
A1784S Conflicting classifications of pathogeni 0.104 benign 해석 →
A1784T Conflicting classifications of pathogeni 0.115 benign 해석 →
A17S Benign 0.087 benign ✓ 해석 →
A1823E Conflicting classifications of pathogeni 0.394 ambiguous 해석 →
A1823V Conflicting classifications of pathogeni 0.106 benign 해석 →
A232E Uncertain significance 0.675 pathogenic 해석 →
A232V not provided 0.383 ambiguous 해석 →
A233G Benign 0.400 ambiguous 해석 →
A247T Conflicting classifications of pathogeni 0.078 benign 해석 →
A247V Uncertain significance 0.102 benign 해석 →
A30S Uncertain significance 0.094 benign 해석 →
A317D Uncertain significance 0.086 benign 해석 →
A317T Likely benign 0.061 benign ✓ 해석 →
A372D Likely benign 0.085 benign ✓ 해석 →
A372G Uncertain significance 0.073 benign 해석 →
A372S Likely benign 0.070 benign ✓ 해석 →
A372T Conflicting classifications of pathogeni 0.064 benign 해석 →
A374T Conflicting classifications of pathogeni 0.066 benign 해석 →
A37T Uncertain significance 0.201 benign 해석 →
A381S Benign 0.070 benign ✓ 해석 →
A381T Conflicting classifications of pathogeni 0.062 benign 해석 →
A397T Conflicting classifications of pathogeni 0.060 benign 해석 →
A397V Benign 0.069 benign ✓ 해석 →
A436V Conflicting classifications of pathogeni 0.453 ambiguous 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.