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

LCT: AM vs ClinVar 일치도

448 변이
✓ 둘 다 병원성
2
✓ 둘 다 양성
17
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
428
AM ↔ ClinVar 비교 가능 변이 20건 중 19건 일치 / 1건 불일치 — 일치도 95%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C254* Pathogenic — 미적재 해석 →
E1612* Likely pathogenic — 미적재 해석 →
G1363S Likely pathogenic 0.515 ambiguous 해석 →
I1646* Pathogenic — 미적재 해석 →
K327* Pathogenic — 미적재 해석 →
K787* Pathogenic/Likely pathogenic — 미적재 해석 →
Q1179* Pathogenic/Likely pathogenic — 미적재 해석 →
Q185* Pathogenic — 미적재 해석 →
Q268H Pathogenic 0.309 benign ⚠ 해석 →
R1311* Pathogenic — 미적재 해석 →
R1455C Likely pathogenic 0.817 pathogenic ✓ 해석 →
R1787* Pathogenic — 미적재 해석 →
R1836* Pathogenic — 미적재 해석 →
R222* Pathogenic — 미적재 해석 →
S1650R Likely pathogenic 0.986 pathogenic ✓ 해석 →
W1153* Pathogenic — 미적재 해석 →
W363* Pathogenic — 미적재 해석 →
Y1354* Pathogenic — 미적재 해석 →
Y1390* Pathogenic — 미적재 해석 →
Y1473* Likely pathogenic — 미적재 해석 →
A1096T Uncertain significance 0.068 benign 해석 →
A1096V Uncertain significance 0.106 benign 해석 →
A1142T Uncertain significance 0.354 ambiguous 해석 →
A1143T Uncertain significance 0.425 ambiguous 해석 →
A1199T Uncertain significance 0.105 benign 해석 →
A11V Likely benign 0.070 benign ✓ 해석 →
A1233S Uncertain significance 0.078 benign 해석 →
A123V Uncertain significance 0.161 benign 해석 →
A1244T Uncertain significance 0.099 benign 해석 →
A1249V Likely benign 0.061 benign ✓ 해석 →
A1302S Uncertain significance 0.252 benign 해석 →
A1352S Uncertain significance 0.093 benign 해석 →
A1352T Uncertain significance 0.080 benign 해석 →
A1352V Uncertain significance 0.159 benign 해석 →
A138G Uncertain significance 0.096 benign 해석 →
A138T Uncertain significance 0.074 benign 해석 →
A1395V Uncertain significance 0.729 pathogenic 해석 →
A1398E Uncertain significance 0.089 benign 해석 →
A1468V Uncertain significance 0.124 benign 해석 →
A1483S Conflicting classifications of pathogeni 0.102 benign 해석 →
A1483T Uncertain significance 0.111 benign 해석 →
A148G Uncertain significance 0.121 benign 해석 →
A152T Benign/Likely benign 0.129 benign ✓ 해석 →
A1574S Uncertain significance 0.138 benign 해석 →
A1588S Uncertain significance 0.081 benign 해석 →
A1588T Uncertain significance 0.086 benign 해석 →
A158T Uncertain significance 0.127 benign 해석 →
A158V Uncertain significance 0.120 benign 해석 →
A1617T Uncertain significance 0.212 benign 해석 →
A1617V Uncertain significance 0.399 ambiguous 해석 →
A1694T Uncertain significance 0.087 benign 해석 →
A1710T Uncertain significance 0.060 benign 해석 →
A1794V Conflicting classifications of pathogeni 0.058 benign 해석 →
A1828T Uncertain significance 0.094 benign 해석 →
A1844T Uncertain significance 0.090 benign 해석 →
A1883T Uncertain significance 0.196 benign 해석 →
A189V Uncertain significance 0.097 benign 해석 →
A202S Uncertain significance 0.178 benign 해석 →
A237T Uncertain significance 0.077 benign 해석 →
A237V Uncertain significance 0.088 benign 해석 →
A358D Uncertain significance 0.218 benign 해석 →
A365E Uncertain significance 0.117 benign 해석 →
A372V Uncertain significance 0.083 benign 해석 →
A376D Uncertain significance 0.125 benign 해석 →
A424E Uncertain significance 0.119 benign 해석 →
A424V Uncertain significance 0.092 benign 해석 →
A437T Uncertain significance 0.082 benign 해석 →
A441T Uncertain significance 0.101 benign 해석 →
A493V Uncertain significance 0.076 benign 해석 →
A518D Uncertain significance 0.190 benign 해석 →
A523V Uncertain significance 0.601 pathogenic 해석 →
A524G Uncertain significance 0.120 benign 해석 →
A524T Uncertain significance 0.087 benign 해석 →
A549T Uncertain significance 0.251 benign 해석 →
A577S Uncertain significance 0.146 benign 해석 →
A669T Uncertain significance 0.071 benign 해석 →
A694T Uncertain significance 0.073 benign 해석 →
A798V Uncertain significance 0.089 benign 해석 →
A921S Uncertain significance 0.109 benign 해석 →
A921T Uncertain significance 0.286 benign 해석 →
A94T Uncertain significance 0.092 benign 해석 →
A961D Uncertain significance 0.173 benign 해석 →
C444S Uncertain significance 0.100 benign 해석 →
D106E Uncertain significance 0.183 benign 해석 →
D1085N Uncertain significance 0.119 benign 해석 →
D1202N Uncertain significance 0.530 ambiguous 해석 →
D1237Y Uncertain significance 0.162 benign 해석 →
D1266G Uncertain significance 0.125 benign 해석 →
D1399G Uncertain significance 0.277 benign 해석 →
D1419N Uncertain significance 0.077 benign 해석 →
D1427N Uncertain significance 0.149 benign 해석 →
D1478N Uncertain significance 0.122 benign 해석 →
D153N Uncertain significance 0.094 benign 해석 →
D1584N Uncertain significance 0.096 benign 해석 →
D1648H Uncertain significance 0.239 benign 해석 →
D164G Uncertain significance 0.230 benign 해석 →
D1703G Uncertain significance 0.938 pathogenic 해석 →
D21A Uncertain significance 0.095 benign 해석 →
D244N Uncertain significance 0.363 ambiguous 해석 →
D249N Uncertain significance 0.112 benign 해석 →
D307N Uncertain significance 0.090 benign 해석 →
D412Y Uncertain significance 0.481 ambiguous 해석 →
D431N Uncertain significance 0.126 benign 해석 →
D482V Uncertain significance 0.227 benign 해석 →
D58N Uncertain significance 0.068 benign 해석 →
D640N Uncertain significance 0.114 benign 해석 →
D824N Uncertain significance 0.104 benign 해석 →
D905G Benign/Likely benign 0.094 benign ✓ 해석 →
D925N Uncertain significance 0.201 benign 해석 →
D954N Uncertain significance 0.130 benign 해석 →
D998G Uncertain significance 0.149 benign 해석 →
E107K Uncertain significance 0.062 benign 해석 →
E1227K Uncertain significance 0.067 benign 해석 →
E145K Uncertain significance 0.071 benign 해석 →
E1757D Uncertain significance 0.082 benign 해석 →
E186Q Uncertain significance 0.095 benign 해석 →
E208K Uncertain significance 0.061 benign 해석 →
E228G Uncertain significance 0.091 benign 해석 →
E349K Uncertain significance 0.065 benign 해석 →
E490K Uncertain significance 0.076 benign 해석 →
E612Q Uncertain significance 0.095 benign 해석 →
E665K Uncertain significance 0.094 benign 해석 →
E788D Uncertain significance 0.172 benign 해석 →
E875K Uncertain significance 0.113 benign 해석 →
F1332C Uncertain significance 0.681 pathogenic 해석 →
F151L Uncertain significance 0.934 pathogenic 해석 →
F1523C Uncertain significance 0.932 pathogenic 해석 →
F1720L Uncertain significance 0.430 ambiguous 해석 →
F530S Uncertain significance 0.883 pathogenic 해석 →
F71Y Uncertain significance 0.147 benign 해석 →
F837I Uncertain significance 0.104 benign 해석 →
F90L Uncertain significance 0.620 pathogenic 해석 →
F935C Uncertain significance 0.689 pathogenic 해석 →
F9L Uncertain significance 0.287 benign 해석 →
G1006V Uncertain significance 0.320 benign 해석 →
G1032S Uncertain significance 0.330 benign 해석 →
G1087S Uncertain significance 0.176 benign 해석 →
G1173V Uncertain significance 0.496 ambiguous 해석 →
G1277R Uncertain significance 0.713 pathogenic 해석 →
G1327A Uncertain significance 0.464 ambiguous 해석 →
G1333V Uncertain significance 0.959 pathogenic 해석 →
G1375R Uncertain significance 0.455 ambiguous 해석 →
G1400S Uncertain significance 0.302 benign 해석 →
G1548D Uncertain significance 0.805 pathogenic 해석 →
G163R Uncertain significance 0.314 benign 해석 →
G1788E Uncertain significance 0.969 pathogenic 해석 →
G1839D Uncertain significance 0.939 pathogenic 해석 →
G1876S Conflicting classifications of pathogeni 0.080 benign 해석 →
G1912R Uncertain significance 0.082 benign 해석 →
G215R Uncertain significance 0.275 benign 해석 →
G33V Uncertain significance 0.689 pathogenic 해석 →
G385V Uncertain significance 0.157 benign 해석 →
G466R Uncertain significance 0.090 benign 해석 →
G466W Uncertain significance 0.192 benign 해석 →
G554S Uncertain significance 0.197 benign 해석 →
G559S Uncertain significance 0.090 benign 해석 →
G57E Uncertain significance 0.074 benign 해석 →
G708A Uncertain significance 0.233 benign 해석 →
G754R Uncertain significance 0.625 pathogenic 해석 →
G810V Uncertain significance 0.287 benign 해석 →
G846S Uncertain significance 0.116 benign 해석 →
G851E Uncertain significance 0.065 benign 해석 →
G901R Uncertain significance 0.682 pathogenic 해석 →
G940E Uncertain significance 0.155 benign 해석 →
G996R Uncertain significance 0.920 pathogenic 해석 →
H1020Y Uncertain significance 0.298 benign 해석 →
H1292Y Uncertain significance 0.081 benign 해석 →
H132Q Uncertain significance 0.446 ambiguous 해석 →
H1493Q Uncertain significance 0.949 pathogenic 해석 →
H160R Uncertain significance 0.065 benign 해석 →
H184N Uncertain significance 0.091 benign 해석 →
H207Q Uncertain significance 0.195 benign 해석 →
H348L Uncertain significance 0.067 benign 해석 →
H41P Uncertain significance 0.090 benign 해석 →
H41R Uncertain significance 0.063 benign 해석 →
H584N Uncertain significance 0.158 benign 해석 →
H589Q Uncertain significance 0.298 benign 해석 →
H633Q Uncertain significance 0.704 pathogenic 해석 →
H658R Uncertain significance 0.063 benign 해석 →
H712Y Uncertain significance 0.115 benign 해석 →
H995Y Uncertain significance 0.084 benign 해석 →
I1093M Uncertain significance 0.147 benign 해석 →
I10T Uncertain significance 0.069 benign 해석 →
I1269V Uncertain significance 0.071 benign 해석 →
I1289K Uncertain significance 0.292 benign 해석 →
I1392T Uncertain significance 0.214 benign 해석 →
I1421V Uncertain significance 0.060 benign 해석 →
I1432V Uncertain significance 0.115 benign 해석 →
I1451V Uncertain significance 0.073 benign 해석 →
I1566V Uncertain significance 0.067 benign 해석 →
I1572L Uncertain significance 0.063 benign 해석 →
I226T Uncertain significance 0.236 benign 해석 →
I270T Uncertain significance 0.075 benign 해석 →
I278V Uncertain significance 0.107 benign 해석 →
I312T Uncertain significance 0.095 benign 해석 →
I316M Uncertain significance 0.086 benign 해석 →
I362V Benign 0.056 benign ✓ 해석 →
I362V Likely benign 0.056 benign ✓ 해석 →
I481M Uncertain significance 0.161 benign 해석 →
I732M Uncertain significance 0.111 benign 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.