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

ABCC11: AM vs ClinVar 일치도

239 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
31
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
1
— AM 미적재
207
AM ↔ ClinVar 비교 가능 변이 32건 중 31건 일치 / 1건 불일치 — 일치도 96.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1031V Uncertain significance 0.071 benign 해석 →
A1095V Uncertain significance 0.129 benign 해석 →
A1289G Uncertain significance 0.215 benign 해석 →
A208P Uncertain significance 0.815 pathogenic 해석 →
A286S Likely benign 0.092 benign ✓ 해석 →
A286T Uncertain significance 0.071 benign 해석 →
A286V Uncertain significance 0.083 benign 해석 →
A324T Uncertain significance 0.077 benign 해석 →
A399V Likely benign 0.086 benign ✓ 해석 →
A414V Uncertain significance 0.106 benign 해석 →
A447S Uncertain significance 0.122 benign 해석 →
A479T Uncertain significance 0.229 benign 해석 →
A494T Uncertain significance 0.076 benign 해석 →
A56V Uncertain significance 0.087 benign 해석 →
A67S Uncertain significance 0.117 benign 해석 →
A799T Uncertain significance 0.137 benign 해석 →
A870T Likely benign 0.079 benign ✓ 해석 →
A924S Likely benign 0.080 benign ✓ 해석 →
A950T Uncertain significance 0.088 benign 해석 →
C1131R Uncertain significance 0.119 benign 해석 →
C285W Uncertain significance 0.339 benign 해석 →
C711R Uncertain significance 0.082 benign 해석 →
C922Y Uncertain significance 0.178 benign 해석 →
D1020G Uncertain significance 0.087 benign 해석 →
D1020H Uncertain significance 0.125 benign 해석 →
D1030G Uncertain significance 0.528 ambiguous 해석 →
D1213N Uncertain significance 0.088 benign 해석 →
D1249A Uncertain significance 0.084 benign 해석 →
D1343N Uncertain significance 0.105 benign 해석 →
D1357A Uncertain significance 0.188 benign 해석 →
D166N Uncertain significance 0.112 benign 해석 →
D659N Uncertain significance 0.435 ambiguous 해석 →
D65G Uncertain significance 0.090 benign 해석 →
E1252Q Uncertain significance 0.083 benign 해석 →
E138G Uncertain significance 0.120 benign 해석 →
E458D Uncertain significance 0.120 benign 해석 →
E478D Uncertain significance 0.088 benign 해석 →
E51K Uncertain significance 0.078 benign 해석 →
E565K Uncertain significance 0.089 benign 해석 →
E626K Uncertain significance 0.122 benign 해석 →
E674G Uncertain significance 0.155 benign 해석 →
E765K Uncertain significance 0.072 benign 해석 →
F1105Y Uncertain significance 0.184 benign 해석 →
F1370L Uncertain significance 0.788 pathogenic 해석 →
F249S Uncertain significance 0.177 benign 해석 →
F391L Uncertain significance 0.575 pathogenic 해석 →
F462L Likely benign 0.167 benign ✓ 해석 →
F80I Uncertain significance 0.091 benign 해석 →
F980L Uncertain significance 0.807 pathogenic 해석 →
G1178S Uncertain significance 0.285 benign 해석 →
G1203D Uncertain significance 0.083 benign 해석 →
G1203S Uncertain significance 0.077 benign 해석 →
G1275S Uncertain significance 0.222 benign 해석 →
G1276R Uncertain significance 0.072 benign 해석 →
G180R Benign 0.859 pathogenic ⚠ 해석 →
G380R Uncertain significance 0.315 benign 해석 →
G440D Uncertain significance 0.618 pathogenic 해석 →
G489R Uncertain significance 0.076 benign 해석 →
G544S Uncertain significance 0.369 ambiguous 해석 →
G631S Uncertain significance 0.400 ambiguous 해석 →
G700S Uncertain significance 0.059 benign 해석 →
G769E Likely benign 0.063 benign ✓ 해석 →
G769R Uncertain significance 0.076 benign 해석 →
G769R Uncertain significance 0.076 benign 해석 →
G786A Uncertain significance 0.149 benign 해석 →
G786V Uncertain significance 0.152 benign 해석 →
G882E Uncertain significance 0.198 benign 해석 →
G985S Uncertain significance 0.078 benign 해석 →
H1268Q Likely benign 0.075 benign ✓ 해석 →
I1161T Uncertain significance 0.625 pathogenic 해석 →
I1209S Uncertain significance 0.196 benign 해석 →
I1221F Uncertain significance 0.413 ambiguous 해석 →
I1345T Uncertain significance 0.669 pathogenic 해석 →
I146T Uncertain significance 0.062 benign 해석 →
I182V Uncertain significance 0.063 benign 해석 →
I225F Uncertain significance 0.210 benign 해석 →
I23V Uncertain significance 0.065 benign 해석 →
I305V Likely benign 0.072 benign ✓ 해석 →
I307V Uncertain significance 0.073 benign 해석 →
I365T Uncertain significance 0.092 benign 해석 →
I393T Uncertain significance 0.134 benign 해석 →
I627F Uncertain significance 0.334 benign 해석 →
I916V Uncertain significance 0.057 benign 해석 →
K1077I Uncertain significance 0.648 pathogenic 해석 →
K1258R Uncertain significance 0.077 benign 해석 →
K1297E Uncertain significance 0.215 benign 해석 →
K359R Uncertain significance 0.092 benign 해석 →
K439Q Uncertain significance 0.175 benign 해석 →
K453T Uncertain significance 0.104 benign 해석 →
K709N Uncertain significance 0.186 benign 해석 →
K722I Uncertain significance 0.222 benign 해석 →
L1184S Uncertain significance 0.758 pathogenic 해석 →
L1218F Likely benign 0.072 benign ✓ 해석 →
L1218H Uncertain significance 0.590 pathogenic 해석 →
L410R Uncertain significance 0.079 benign 해석 →
L742F Uncertain significance 0.073 benign 해석 →
L759M Uncertain significance 0.086 benign 해석 →
L767F Uncertain significance 0.075 benign 해석 →
L899F Uncertain significance 0.202 benign 해석 →
L930P Uncertain significance 0.559 ambiguous 해석 →
L946F Uncertain significance 0.092 benign 해석 →
L95V Uncertain significance 0.108 benign 해석 →
M1117T Uncertain significance 0.107 benign 해석 →
M1148V Uncertain significance 0.159 benign 해석 →
M1195T Uncertain significance 0.056 benign 해석 →
M1310T Likely benign 0.072 benign ✓ 해석 →
M27I Uncertain significance 0.233 benign 해석 →
M27I Uncertain significance 0.233 benign 해석 →
M416V Likely benign 0.060 benign ✓ 해석 →
M561V Uncertain significance 0.414 ambiguous 해석 →
M733R Uncertain significance 0.106 benign 해석 →
M804V Likely benign 0.056 benign ✓ 해석 →
M847I Uncertain significance 0.133 benign 해석 →
M970V Benign 0.061 benign ✓ 해석 →
M979K Uncertain significance 0.078 benign 해석 →
N1033S Likely benign 0.096 benign ✓ 해석 →
N1055K Uncertain significance 0.827 pathogenic 해석 →
N1295D Uncertain significance 0.080 benign 해석 →
N521K Likely benign 0.081 benign ✓ 해석 →
N545D Uncertain significance 0.085 benign 해석 →
N838D Uncertain significance 0.091 benign 해석 →
P102L Uncertain significance 0.233 benign 해석 →
P1073R Uncertain significance 0.131 benign 해석 →
P119L Uncertain significance 0.075 benign 해석 →
P1359Q Uncertain significance 0.364 ambiguous 해석 →
P279L Uncertain significance 0.327 benign 해석 →
P42S Uncertain significance 0.074 benign 해석 →
P516S Uncertain significance 0.078 benign 해석 →
P53S Uncertain significance 0.080 benign 해석 →
P78L Uncertain significance 0.184 benign 해석 →
P78S Benign 0.167 benign ✓ 해석 →
P85A Uncertain significance 0.136 benign 해석 →
P85T Uncertain significance 0.200 benign 해석 →
P935S Uncertain significance 0.394 ambiguous 해석 →
Q863E Uncertain significance 0.099 benign 해석 →
R109Q Likely benign 0.072 benign ✓ 해석 →
R109W Uncertain significance 0.109 benign 해석 →
R1166H Likely benign 0.057 benign ✓ 해석 →
R1190C Uncertain significance 0.135 benign 해석 →
R1198Q Uncertain significance 0.072 benign 해석 →
R1198W Uncertain significance 0.129 benign 해석 →
R1215Q Uncertain significance 0.410 ambiguous 해석 →
R1241C Likely benign 0.060 benign ✓ 해석 →
R1241H Uncertain significance 0.059 benign 해석 →
R1283G Uncertain significance 0.487 ambiguous 해석 →
R1294H Uncertain significance 0.088 benign 해석 →
R1318C Uncertain significance 0.071 benign 해석 →
R1318H Likely benign 0.058 benign ✓ 해석 →
R1321H Uncertain significance 0.078 benign 해석 →
R1335C Benign 0.306 benign ✓ 해석 →
R1358W Uncertain significance 0.124 benign 해석 →
R135C Uncertain significance 0.091 benign 해석 →
R1363W Uncertain significance 0.089 benign 해석 →
R144Q Uncertain significance 0.084 benign 해석 →
R229C Uncertain significance 0.194 benign 해석 →
R229H Uncertain significance 0.104 benign 해석 →
R235Q Uncertain significance 0.115 benign 해석 →
R338H Uncertain significance 0.284 benign 해석 →
R340H Uncertain significance 0.080 benign 해석 →
R373G Uncertain significance 0.106 benign 해석 →
R614Q Uncertain significance 0.076 benign 해석 →
R630Q Uncertain significance 0.091 benign 해석 →
R630W Likely benign 0.116 benign ✓ 해석 →
R646C Uncertain significance 0.280 benign 해석 →
R652C Uncertain significance 0.092 benign 해석 →
R652H Uncertain significance 0.082 benign 해석 →
R69K Uncertain significance 0.077 benign 해석 →
R75C Uncertain significance 0.259 benign 해석 →
R75L Uncertain significance 0.445 ambiguous 해석 →
R791K Uncertain significance 0.068 benign 해석 →
R889G Uncertain significance 0.134 benign 해석 →
R905H Uncertain significance 0.061 benign 해석 →
R918W Uncertain significance 0.145 benign 해석 →
R995W Uncertain significance 0.139 benign 해석 →
S1010R Uncertain significance 0.446 ambiguous 해석 →
S1011F Uncertain significance 0.315 benign 해석 →
S1075Y Uncertain significance 0.207 benign 해석 →
S292G Uncertain significance 0.064 benign 해석 →
S387N Uncertain significance 0.132 benign 해석 →
S522N Uncertain significance 0.075 benign 해석 →
S573N Uncertain significance 0.127 benign 해석 →
S635A Uncertain significance 0.513 ambiguous 해석 →
S739L Uncertain significance 0.065 benign 해석 →
S806C Uncertain significance 0.062 benign 해석 →
S835L Uncertain significance 0.172 benign 해석 →
S938* Likely benign — 미적재 해석 →
T101N Uncertain significance 0.134 benign 해석 →
T1072A Likely benign 0.063 benign ✓ 해석 →
T1106M Likely benign 0.089 benign ✓ 해석 →
T1129I Uncertain significance 0.066 benign 해석 →
T1129S Uncertain significance 0.077 benign 해석 →
T1254I Uncertain significance 0.261 benign 해석 →
T1269A Likely benign 0.055 benign ✓ 해석 →
T1269I Uncertain significance 0.179 benign 해석 →
T1337A Uncertain significance 0.070 benign 해석 →
T1337S Uncertain significance 0.084 benign 해석 →
T161K Uncertain significance 0.532 ambiguous 해석 →
T302A Uncertain significance 0.147 benign 해석 →
T389N Uncertain significance 0.152 benign 해석 →
T389S Uncertain significance 0.100 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.