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

CDK5RAP2: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
2
✓ 둘 다 양성
32
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
3
— AM 미적재
463
AM ↔ ClinVar 비교 가능 변이 37건 중 34건 일치 / 3건 불일치 — 일치도 91.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C1811* Likely pathogenic — 미적재 해석 →
E119* Pathogenic — 미적재 해석 →
E1516* Pathogenic — 미적재 해석 →
E225* Likely pathogenic — 미적재 해석 →
E234* Pathogenic — 미적재 해석 →
E243* Pathogenic — 미적재 해석 →
K333* Likely pathogenic — 미적재 해석 →
K656N Likely pathogenic 0.613 pathogenic ✓ 해석 →
L1284* Pathogenic — 미적재 해석 →
L1860* Likely pathogenic — 미적재 해석 →
L84F Pathogenic 0.702 pathogenic ✓ 해석 →
Q1154* Pathogenic — 미적재 해석 →
Q1204* Likely pathogenic — 미적재 해석 →
Q1301* Pathogenic — 미적재 해석 →
Q1474* Pathogenic — 미적재 해석 →
Q1520* Pathogenic — 미적재 해석 →
Q1743* Pathogenic — 미적재 해석 →
Q356* Likely pathogenic — 미적재 해석 →
Q963* Likely pathogenic — 미적재 해석 →
Q965* Pathogenic — 미적재 해석 →
Q972* Pathogenic — 미적재 해석 →
R1372* Likely pathogenic — 미적재 해석 →
R1403* Pathogenic/Likely pathogenic — 미적재 해석 →
R1481* Pathogenic/Likely pathogenic — 미적재 해석 →
R150* Pathogenic — 미적재 해석 →
R1558* Pathogenic — 미적재 해석 →
R260* Pathogenic — 미적재 해석 →
R427* Pathogenic — 미적재 해석 →
S622* Pathogenic — 미적재 해석 →
W1719* Likely pathogenic — 미적재 해석 →
Y1659* Pathogenic — 미적재 해석 →
Y369* Pathogenic — 미적재 해석 →
Y82* Pathogenic — 미적재 해석 →
A1287S Uncertain significance 0.138 benign 해석 →
A1295T Uncertain significance 0.267 benign 해석 →
A1358V Likely benign 0.073 benign ✓ 해석 →
A137S not provided 0.085 benign 해석 →
A137V Uncertain significance 0.118 benign 해석 →
A1577V Conflicting classifications of pathogeni 0.116 benign 해석 →
A1627T Uncertain significance 0.082 benign 해석 →
A1630P Uncertain significance 0.125 benign 해석 →
A1630T Uncertain significance 0.091 benign 해석 →
A1641P Uncertain significance 0.130 benign 해석 →
A173V Uncertain significance 0.125 benign 해석 →
A1758V Uncertain significance 0.083 benign 해석 →
A1774T Uncertain significance 0.082 benign 해석 →
A1774V Likely benign 0.078 benign ✓ 해석 →
A181S Uncertain significance 0.190 benign 해석 →
A183P Uncertain significance 0.426 ambiguous 해석 →
A1881P Uncertain significance 0.084 benign 해석 →
A190P Uncertain significance 0.722 pathogenic 해석 →
A190V not provided 0.134 benign 해석 →
A211V Uncertain significance 0.111 benign 해석 →
A213T Uncertain significance 0.085 benign 해석 →
A235T Uncertain significance 0.137 benign 해석 →
A265V Uncertain significance 0.114 benign 해석 →
A294P Uncertain significance 0.715 pathogenic 해석 →
A294V Uncertain significance 0.122 benign 해석 →
A326S Uncertain significance 0.210 benign 해석 →
A354T Uncertain significance 0.079 benign 해석 →
A358T Uncertain significance 0.074 benign 해석 →
A382V Uncertain significance 0.102 benign 해석 →
A696P Uncertain significance 0.089 benign 해석 →
A696V Uncertain significance 0.095 benign 해석 →
A705T Uncertain significance 0.101 benign 해석 →
A762T Uncertain significance 0.069 benign 해석 →
A764P Uncertain significance 0.087 benign 해석 →
A764T Uncertain significance 0.064 benign 해석 →
A772V Likely benign 0.091 benign ✓ 해석 →
A778V Uncertain significance 0.155 benign 해석 →
A855T Uncertain significance 0.077 benign 해석 →
A871T Uncertain significance 0.103 benign 해석 →
A889T Uncertain significance 0.082 benign 해석 →
A893P Uncertain significance 0.111 benign 해석 →
A905T Uncertain significance 0.072 benign 해석 →
A905V Uncertain significance 0.098 benign 해석 →
A920V Uncertain significance 0.116 benign 해석 →
C1054R Uncertain significance 0.131 benign 해석 →
C1065Y Uncertain significance 0.092 benign 해석 →
C19R Conflicting classifications of pathogeni 0.223 benign 해석 →
C636G Uncertain significance 0.594 pathogenic 해석 →
C744Y Uncertain significance 0.128 benign 해석 →
D1019N Uncertain significance 0.087 benign 해석 →
D1050E Uncertain significance 0.155 benign 해석 →
D1058E Uncertain significance 0.158 benign 해석 →
D1195E Likely benign 0.188 benign ✓ 해석 →
D1243N Uncertain significance 0.099 benign 해석 →
D1377N Uncertain significance 0.084 benign 해석 →
D1377Y not provided 0.119 benign 해석 →
D1586G Uncertain significance 0.167 benign 해석 →
D158N Uncertain significance 0.104 benign 해석 →
D1655G Uncertain significance 0.076 benign 해석 →
D1698V Uncertain significance 0.113 benign 해석 →
D220E Uncertain significance 0.326 benign 해석 →
D31N not provided 0.081 benign 해석 →
D500H Uncertain significance 0.191 benign 해석 →
D709G Uncertain significance 0.100 benign 해석 →
D820G Likely benign 0.097 benign ✓ 해석 →
D820N Uncertain significance 0.103 benign 해석 →
D881N Uncertain significance 0.083 benign 해석 →
E1023D Uncertain significance 0.110 benign 해석 →
E1048D Uncertain significance 0.097 benign 해석 →
E1070Q Uncertain significance 0.113 benign 해석 →
E111G Uncertain significance 0.706 pathogenic 해석 →
E121Q Uncertain significance 0.198 benign 해석 →
E1283K Uncertain significance 0.157 benign 해석 →
E1283V Uncertain significance 0.263 benign 해석 →
E1334K Uncertain significance 0.091 benign 해석 →
E1352G Uncertain significance 0.087 benign 해석 →
E1401G Uncertain significance 0.656 pathogenic 해석 →
E1410K Uncertain significance 0.450 ambiguous 해석 →
E1476D Uncertain significance 0.502 ambiguous 해석 →
E147K Uncertain significance 0.150 benign 해석 →
E1482V Conflicting classifications of pathogeni 0.290 benign 해석 →
E1492D Uncertain significance 0.277 benign 해석 →
E1506G Uncertain significance 0.101 benign 해석 →
E1516G not provided 0.108 benign 해석 →
E1532K Likely benign 0.147 benign ✓ 해석 →
E1532M Uncertain significance 0.412 ambiguous 해석 →
E1539K Uncertain significance 0.200 benign 해석 →
E1539Q Uncertain significance 0.234 benign 해석 →
E1632K Uncertain significance 0.087 benign 해석 →
E1765D Likely benign 0.104 benign ✓ 해석 →
E177V Uncertain significance 0.341 ambiguous 해석 →
E1791D Uncertain significance 0.196 benign 해석 →
E207G Uncertain significance 0.092 benign 해석 →
E207K Uncertain significance 0.071 benign 해석 →
E243K Likely benign 0.132 benign ✓ 해석 →
E273K Uncertain significance 0.115 benign 해석 →
E280D Uncertain significance 0.145 benign 해석 →
E289Q Benign 0.110 benign ✓ 해석 →
E296V Uncertain significance 0.237 benign 해석 →
E362K Likely benign 0.073 benign ✓ 해석 →
E476G Uncertain significance 0.117 benign 해석 →
E49K Likely benign 0.112 benign ✓ 해석 →
E517V Uncertain significance 0.115 benign 해석 →
E552L Uncertain significance 0.242 benign 해석 →
E552V Uncertain significance 0.135 benign 해석 →
E609G Uncertain significance 0.144 benign 해석 →
E619K Uncertain significance 0.189 benign 해석 →
E621A Uncertain significance 0.173 benign 해석 →
E64K Uncertain significance 0.672 pathogenic 해석 →
E64Q Uncertain significance 0.420 ambiguous 해석 →
E69K Uncertain significance 0.579 pathogenic 해석 →
E717K Uncertain significance 0.070 benign 해석 →
E720Q Uncertain significance 0.103 benign 해석 →
E720V Uncertain significance 0.152 benign 해석 →
E753G Uncertain significance 0.075 benign 해석 →
E790D Uncertain significance 0.203 benign 해석 →
E824K Uncertain significance 0.071 benign 해석 →
E854A Uncertain significance 0.100 benign 해석 →
E879G Uncertain significance 0.108 benign 해석 →
E906D Uncertain significance 0.113 benign 해석 →
E932K Uncertain significance 0.128 benign 해석 →
F1316I Uncertain significance 0.209 benign 해석 →
F1369L Uncertain significance 0.311 benign 해석 →
F182L not provided 0.802 pathogenic 해석 →
F1833L Uncertain significance 0.556 ambiguous 해석 →
F540C Uncertain significance 0.117 benign 해석 →
F643Y Uncertain significance 0.121 benign 해석 →
F723C Uncertain significance 0.115 benign 해석 →
F885L Benign/Likely benign 0.632 pathogenic ⚠ 해석 →
G1022E Benign 0.090 benign ✓ 해석 →
G1125D Uncertain significance 0.164 benign 해석 →
G138S Conflicting classifications of pathogeni 0.089 benign 해석 →
G1427R Uncertain significance 0.312 benign 해석 →
G1626R Uncertain significance 0.222 benign 해석 →
G1715S Uncertain significance 0.091 benign 해석 →
G1724S Uncertain significance 0.198 benign 해석 →
G184R Uncertain significance 0.241 benign 해석 →
G1880E Uncertain significance 0.119 benign 해석 →
G365E Uncertain significance 0.124 benign 해석 →
G432R Uncertain significance 0.170 benign 해석 →
G867R not provided 0.127 benign 해석 →
G917R Uncertain significance 0.125 benign 해석 →
G998R Uncertain significance 0.148 benign 해석 →
G998R Uncertain significance 0.148 benign 해석 →
H1136Y Uncertain significance 0.098 benign 해석 →
H1175Y Uncertain significance 0.132 benign 해석 →
H1493P Uncertain significance 0.367 ambiguous 해석 →
H1726L Uncertain significance 0.378 ambiguous 해석 →
H1726R Uncertain significance 0.441 ambiguous 해석 →
H395Y Uncertain significance 0.122 benign 해석 →
H566Y Uncertain significance 0.088 benign 해석 →
H763R Uncertain significance 0.078 benign 해석 →
H818Y Uncertain significance 0.083 benign 해석 →
H887Q Uncertain significance 0.113 benign 해석 →
H907L Uncertain significance 0.089 benign 해석 →
I1130V Uncertain significance 0.094 benign 해석 →
I1194V Uncertain significance 0.080 benign 해석 →
I1227F Uncertain significance 0.254 benign 해석 →
I125F Uncertain significance 0.177 benign 해석 →
I125T Uncertain significance 0.294 benign 해석 →
I1413V Uncertain significance 0.216 benign 해석 →
I1437T Uncertain significance 0.122 benign 해석 →
I1467V Conflicting classifications of pathogeni 0.075 benign 해석 →
I1644L Uncertain significance 0.099 benign 해석 →
I1741T Uncertain significance 0.751 pathogenic 해석 →
I1753V Conflicting classifications of pathogeni 0.098 benign 해석 →
I1818M Benign 0.068 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.