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

WDR62: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
15
✓ 둘 다 양성
15
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
470
AM ↔ ClinVar 비교 가능 변이 30건 중 30건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C260R Likely pathogenic 0.963 pathogenic ✓ 해석 →
C279Y Likely pathogenic 0.983 pathogenic ✓ 해석 →
C647* Pathogenic — 미적재 해석 →
D511N Pathogenic 0.752 pathogenic ✓ 해석 →
E526* Pathogenic — 미적재 해석 →
E526K Uncertain significance 0.655 pathogenic 해석 →
E536* Pathogenic — 미적재 해석 →
G1042* Pathogenic — 미적재 해석 →
G1138* Likely pathogenic — 미적재 해석 →
G494R Conflicting classifications of pathogeni 0.975 pathogenic 해석 →
G862S Likely pathogenic 0.402 ambiguous 해석 →
H220R Likely pathogenic 0.971 pathogenic ✓ 해석 →
H381N Likely pathogenic 0.722 pathogenic ✓ 해석 →
H562D Likely pathogenic 0.998 pathogenic ✓ 해석 →
L677P Pathogenic 0.991 pathogenic ✓ 해석 →
Q1102* Pathogenic — 미적재 해석 →
Q1108* Pathogenic/Likely pathogenic — 미적재 해석 →
Q1449* Uncertain significance — 미적재 해석 →
Q470* Pathogenic — 미적재 해석 →
Q499* Likely pathogenic — 미적재 해석 →
Q754* Likely pathogenic — 미적재 해석 →
Q859* Pathogenic/Likely pathogenic — 미적재 해석 →
Q930* Pathogenic — 미적재 해석 →
Q970* Pathogenic — 미적재 해석 →
R111T Likely pathogenic 0.928 pathogenic ✓ 해석 →
R1136* Pathogenic — 미적재 해석 →
R438C Conflicting classifications of pathogeni 0.840 pathogenic 해석 →
R438H Pathogenic/Likely pathogenic 0.890 pathogenic ✓ 해석 →
R496Q Conflicting classifications of pathogeni 0.864 pathogenic 해석 →
R496W Conflicting classifications of pathogeni 0.915 pathogenic 해석 →
R512* Pathogenic/Likely pathogenic — 미적재 해석 →
R557W Conflicting classifications of pathogeni 0.983 pathogenic 해석 →
R839W Conflicting classifications of pathogeni 0.565 pathogenic 해석 →
R863H Uncertain significance 0.624 pathogenic 해석 →
S120Y Likely pathogenic 0.978 pathogenic ✓ 해석 →
S244L Pathogenic 0.629 pathogenic ✓ 해석 →
S509L Likely pathogenic 0.802 pathogenic ✓ 해석 →
S704* Pathogenic — 미적재 해석 →
S995* Pathogenic — 미적재 해석 →
T829I Likely pathogenic 0.933 pathogenic ✓ 해석 →
V65M Pathogenic 0.937 pathogenic ✓ 해석 →
W1288* Pathogenic — 미적재 해석 →
W186* Pathogenic — 미적재 해석 →
W224S Pathogenic 0.994 pathogenic ✓ 해석 →
W373* Likely pathogenic — 미적재 해석 →
W386* Pathogenic — 미적재 해석 →
W398* Likely pathogenic — 미적재 해석 →
W440* Pathogenic — 미적재 해석 →
Y655N Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
Y885* Pathogenic — 미적재 해석 →
*1524C Uncertain significance — 미적재 해석 →
A1004P Uncertain significance 0.076 benign 해석 →
A1020T Conflicting classifications of pathogeni 0.070 benign 해석 →
A1030T Conflicting classifications of pathogeni 0.065 benign 해석 →
A1030V Uncertain significance 0.074 benign 해석 →
A1078T Uncertain significance — 미적재 해석 →
A1079V Uncertain significance — 미적재 해석 →
A10S Uncertain significance 0.087 benign 해석 →
A110T Uncertain significance 0.086 benign 해석 →
A1110S Uncertain significance — 미적재 해석 →
A1148T Likely benign — 미적재 해석 →
A1157T Uncertain significance — 미적재 해석 →
A1167G Uncertain significance — 미적재 해석 →
A1179V Conflicting classifications of pathogeni 0.084 benign 해석 →
A1184P Uncertain significance — 미적재 해석 →
A1184S Uncertain significance — 미적재 해석 →
A118V Uncertain significance 0.466 ambiguous 해석 →
A1271T Conflicting classifications of pathogeni — 미적재 해석 →
A1271V Benign/Likely benign — 미적재 해석 →
A1284D Uncertain significance — 미적재 해석 →
A1293D Uncertain significance — 미적재 해석 →
A1304T Uncertain significance — 미적재 해석 →
A1336T Conflicting classifications of pathogeni — 미적재 해석 →
A1350P Uncertain significance — 미적재 해석 →
A1350V Uncertain significance — 미적재 해석 →
A1451G Uncertain significance — 미적재 해석 →
A1468T Uncertain significance — 미적재 해석 →
A1468V Uncertain significance — 미적재 해석 →
A1479V Uncertain significance — 미적재 해석 →
A1481T Conflicting classifications of pathogeni — 미적재 해석 →
A1497V Uncertain significance — 미적재 해석 →
A14S Uncertain significance 0.088 benign 해석 →
A1515T Uncertain significance 0.095 benign 해석 →
A1520V Uncertain significance — 미적재 해석 →
A193T Uncertain significance 0.895 pathogenic 해석 →
A266S Uncertain significance 0.092 benign 해석 →
A266V Uncertain significance 0.165 benign 해석 →
A2E Uncertain significance 0.544 ambiguous 해석 →
A322P Uncertain significance 0.291 benign 해석 →
A329T Conflicting classifications of pathogeni 0.069 benign 해석 →
A342T Uncertain significance 0.141 benign 해석 →
A355V Uncertain significance 0.090 benign 해석 →
A357P Uncertain significance 0.611 pathogenic 해석 →
A37P Benign 0.098 benign ✓ 해석 →
A51D Uncertain significance 0.196 benign 해석 →
A585T Uncertain significance 0.574 pathogenic 해석 →
A589T Uncertain significance 0.084 benign 해석 →
A601T Uncertain significance 0.774 pathogenic 해석 →
A854T Uncertain significance 0.066 benign 해석 →
A997T Uncertain significance 0.072 benign 해석 →
C302F Uncertain significance 0.227 benign 해석 →
C376Y Uncertain significance 0.955 pathogenic 해석 →
C41S Conflicting classifications of pathogeni 0.172 benign 해석 →
C431S Uncertain significance 0.571 pathogenic 해석 →
C647F Uncertain significance 0.986 pathogenic 해석 →
C751F Uncertain significance 0.237 benign 해석 →
C751S Uncertain significance 0.168 benign 해석 →
C806W Uncertain significance 0.133 benign 해석 →
C91Y Uncertain significance 0.979 pathogenic 해석 →
D1014G Uncertain significance 0.075 benign 해석 →
D1082G Uncertain significance — 미적재 해석 →
D1151H Uncertain significance — 미적재 해석 →
D13H Uncertain significance 0.255 benign 해석 →
D1500G Uncertain significance — 미적재 해석 →
D1500N Uncertain significance — 미적재 해석 →
D185N Uncertain significance 0.144 benign 해석 →
D314N Uncertain significance 0.103 benign 해석 →
D340A Uncertain significance 0.697 pathogenic 해석 →
D368N Uncertain significance 0.531 ambiguous 해석 →
D380N Uncertain significance 0.862 pathogenic 해석 →
D390G Uncertain significance 0.345 ambiguous 해석 →
D390V Uncertain significance 0.354 ambiguous 해석 →
D503G Uncertain significance 0.659 pathogenic 해석 →
D694E Uncertain significance 0.967 pathogenic 해석 →
D800G Likely benign 0.084 benign ✓ 해석 →
D843Y Uncertain significance 0.216 benign 해석 →
D845V Uncertain significance 0.160 benign 해석 →
D848N Uncertain significance 0.087 benign 해석 →
D955G Uncertain significance 0.081 benign 해석 →
D955N Uncertain significance 0.081 benign 해석 →
D973N Uncertain significance 0.080 benign 해석 →
D981N Uncertain significance 0.064 benign 해석 →
D991E Uncertain significance 0.138 benign 해석 →
D991V Conflicting classifications of pathogeni 0.110 benign 해석 →
E1041D Uncertain significance 0.101 benign 해석 →
E1041K Uncertain significance 0.089 benign 해석 →
E1074G Uncertain significance — 미적재 해석 →
E1087G Uncertain significance — 미적재 해석 →
E1166D Uncertain significance — 미적재 해석 →
E1264K Uncertain significance — 미적재 해석 →
E1292K Uncertain significance — 미적재 해석 →
E1399Q Uncertain significance — 미적재 해석 →
E1405K Uncertain significance — 미적재 해석 →
E1454D Uncertain significance — 미적재 해석 →
E1454K Uncertain significance — 미적재 해석 →
E1454Q Uncertain significance — 미적재 해석 →
E1467G Uncertain significance — 미적재 해석 →
E150D Uncertain significance 0.687 pathogenic 해석 →
E1510K Uncertain significance — 미적재 해석 →
E208G Uncertain significance 0.440 ambiguous 해석 →
E249K Uncertain significance 0.808 pathogenic 해석 →
E520K Uncertain significance 0.550 ambiguous 해석 →
E546D Uncertain significance 0.153 benign 해석 →
E567D Uncertain significance 0.163 benign 해석 →
E627K Uncertain significance 0.903 pathogenic 해석 →
E63D Conflicting classifications of pathogeni 0.515 ambiguous 해석 →
E788K Uncertain significance 0.066 benign 해석 →
E809G Uncertain significance 0.085 benign 해석 →
E871D Uncertain significance 0.123 benign 해석 →
E892K Uncertain significance 0.076 benign 해석 →
E948K Uncertain significance 0.075 benign 해석 →
F1092L Uncertain significance — 미적재 해석 →
F1103L Uncertain significance — 미적재 해석 →
F1428S Uncertain significance — 미적재 해석 →
F223S Uncertain significance 0.998 pathogenic 해석 →
F255V Uncertain significance 0.984 pathogenic 해석 →
F428L Uncertain significance 0.990 pathogenic 해석 →
F439V Benign 0.215 benign ✓ 해석 →
F478L Benign/Likely benign 0.375 ambiguous 해석 →
F523L Uncertain significance 0.939 pathogenic 해석 →
G1031D Uncertain significance 0.079 benign 해석 →
G1138R Uncertain significance — 미적재 해석 →
G1144C Uncertain significance — 미적재 해석 →
G1146S Uncertain significance — 미적재 해석 →
G1159V Uncertain significance — 미적재 해석 →
G1204V Uncertain significance — 미적재 해석 →
G1235S Uncertain significance — 미적재 해석 →
G1239R Uncertain significance — 미적재 해석 →
G1341S Uncertain significance — 미적재 해석 →
G1375S Benign — 미적재 해석 →
G1385S Uncertain significance — 미적재 해석 →
G1447R Uncertain significance — 미적재 해석 →
G1522R Conflicting classifications of pathogeni — 미적재 해석 →
G261S Uncertain significance 0.694 pathogenic 해석 →
G276D Uncertain significance 0.994 pathogenic 해석 →
G344D Uncertain significance 0.624 pathogenic 해석 →
G395S Uncertain significance 0.063 benign 해석 →
G486E Uncertain significance 0.211 benign 해석 →
G5E Uncertain significance 0.262 benign 해석 →
G613V Uncertain significance 0.089 benign 해석 →
G795E Uncertain significance 0.105 benign 해석 →
G81D Uncertain significance 0.128 benign 해석 →
G81S Uncertain significance 0.056 benign 해석 →
G842A Conflicting classifications of pathogeni 0.225 benign 해석 →
G862C Uncertain significance 0.827 pathogenic 해석 →
G869S Uncertain significance 0.073 benign 해석 →
G966R Uncertain significance 0.079 benign 해석 →
G968A Uncertain significance 0.073 benign 해석 →
G993R Uncertain significance 0.104 benign 해석 →
H1007Y Uncertain significance 0.071 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.