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

FOXC1: AM vs ClinVar 일치도

426 변이
✓ 둘 다 병원성
33
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
1
— AM 미적재
385
AM ↔ ClinVar 비교 가능 변이 41건 중 39건 일치 / 2건 불일치 — 일치도 95.1%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A342V Uncertain significance 0.137 benign 해석 →
A85V Likely pathogenic 1.000 pathogenic ✓ 해석 →
A90V Likely pathogenic 1.000 pathogenic ✓ 해석 →
C135* Pathogenic — 미적재 해석 →
C135Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
D157V Likely pathogenic 0.993 pathogenic ✓ 해석 →
E163* Pathogenic — 미적재 해석 →
E258* Pathogenic/Likely pathogenic — 미적재 해석 →
F112S Pathogenic 1.000 pathogenic ✓ 해석 →
F136S Likely pathogenic 1.000 pathogenic ✓ 해석 →
F162L Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
F162V Likely pathogenic 1.000 pathogenic ✓ 해석 →
G121S Likely pathogenic 1.000 pathogenic ✓ 해석 →
G165R Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G380V Likely pathogenic 0.102 benign ⚠ 해석 →
G455* Pathogenic — 미적재 해석 →
G59V Likely pathogenic 0.374 ambiguous 해석 →
H128Q Likely pathogenic 1.000 pathogenic ✓ 해석 →
I126M Pathogenic 1.000 pathogenic ✓ 해석 →
I126S Pathogenic 1.000 pathogenic ✓ 해석 →
I87M Pathogenic 0.998 pathogenic ✓ 해석 →
L130F Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
L86F Pathogenic 1.000 pathogenic ✓ 해석 →
L86R Pathogenic 1.000 pathogenic ✓ 해석 →
N124K Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
N133K Pathogenic 1.000 pathogenic ✓ 해석 →
P297S Benign 0.065 benign ✓ 해석 →
P364S Uncertain significance 0.072 benign 해석 →
P79Q Pathogenic 1.000 pathogenic ✓ 해석 →
P79T Pathogenic 1.000 pathogenic ✓ 해석 →
Q106* Pathogenic — 미적재 해석 →
Q120* Pathogenic — 미적재 해석 →
Q123* Pathogenic — 미적재 해석 →
Q2* Likely pathogenic — 미적재 해석 →
Q23* Pathogenic — 미적재 해석 →
Q238* Pathogenic — 미적재 해석 →
Q367* Likely pathogenic — 미적재 해석 →
Q467* Pathogenic — 미적재 해석 →
Q55* Pathogenic — 미적재 해석 →
Q70* Pathogenic — 미적재 해석 →
Q92* Pathogenic — 미적재 해석 →
Q92P Pathogenic 1.000 pathogenic ✓ 해석 →
R127H Pathogenic 1.000 pathogenic ✓ 해석 →
R127L Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
R127S Likely pathogenic 1.000 pathogenic ✓ 해석 →
R170W Pathogenic 1.000 pathogenic ✓ 해석 →
R173H Likely pathogenic 0.999 pathogenic ✓ 해석 →
S131* Pathogenic — 미적재 해석 →
S131L Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
S131W Pathogenic 1.000 pathogenic ✓ 해석 →
S422* Pathogenic — 미적재 해석 →
S48* Pathogenic — 미적재 해석 →
S82R Pathogenic 1.000 pathogenic ✓ 해석 →
S82R Pathogenic 1.000 pathogenic ✓ 해석 →
S82T Pathogenic 0.996 pathogenic ✓ 해석 →
T88I Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
W122* Pathogenic — 미적재 해석 →
W152* Pathogenic — 미적재 해석 →
W152C Likely pathogenic 1.000 pathogenic ✓ 해석 →
W152G Likely pathogenic 1.000 pathogenic ✓ 해석 →
W152R Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y105* Likely pathogenic — 미적재 해석 →
Y151* Pathogenic — 미적재 해석 →
Y151* Likely pathogenic — 미적재 해석 →
Y353* Pathogenic — 미적재 해석 →
Y393* Pathogenic/Likely pathogenic — 미적재 해석 →
Y47* Pathogenic/Likely pathogenic — 미적재 해석 →
Y497* Pathogenic — 미적재 해석 →
Y64* Pathogenic — 미적재 해석 →
Y81H Pathogenic 1.000 pathogenic ✓ 해석 →
Y83* Pathogenic — 미적재 해석 →
Y83H Likely pathogenic 1.000 pathogenic ✓ 해석 →
A179G Uncertain significance 0.461 ambiguous 해석 →
A179V Uncertain significance 0.126 benign 해석 →
A243S Likely benign 0.080 benign ✓ 해석 →
A243V Uncertain significance 0.098 benign 해석 →
A244T Uncertain significance 0.081 benign 해석 →
A245T Uncertain significance 0.081 benign 해석 →
A251T Uncertain significance 0.070 benign 해석 →
A252T Uncertain significance 0.077 benign 해석 →
A252V Uncertain significance 0.099 benign 해석 →
A253G Uncertain significance 0.103 benign 해석 →
A288V Uncertain significance 0.084 benign 해석 →
A28V Uncertain significance 0.337 benign 해석 →
A291V Uncertain significance 0.073 benign 해석 →
A296G Uncertain significance 0.077 benign 해석 →
A296S Uncertain significance 0.064 benign 해석 →
A299T Uncertain significance 0.071 benign 해석 →
A30V Uncertain significance 0.314 benign 해석 →
A324V Uncertain significance 0.114 benign 해석 →
A326S Uncertain significance 0.069 benign 해석 →
A32T Uncertain significance 0.127 benign 해석 →
A336V Uncertain significance 0.141 benign 해석 →
A33V Uncertain significance 0.208 benign 해석 →
A342G Conflicting classifications of pathogeni 0.077 benign 해석 →
A349T Uncertain significance 0.093 benign 해석 →
A349V Uncertain significance 0.179 benign 해석 →
A352T Uncertain significance 0.077 benign 해석 →
A371V Uncertain significance 0.100 benign 해석 →
A383G Uncertain significance 0.045 benign 해석 →
A387P Uncertain significance 0.096 benign 해석 →
A387S Uncertain significance 0.063 benign 해석 →
A39S Uncertain significance 0.059 benign 해석 →
A404V Conflicting classifications of pathogeni 0.307 benign 해석 →
A415V Uncertain significance 0.072 benign 해석 →
A423T Uncertain significance 0.068 benign 해석 →
A42V Uncertain significance 0.220 benign 해석 →
A464T Uncertain significance 0.081 benign 해석 →
A465G Uncertain significance 0.071 benign 해석 →
A478E Uncertain significance 0.620 pathogenic 해석 →
A478T Conflicting classifications of pathogeni 0.112 benign 해석 →
A486P Uncertain significance 0.181 benign 해석 →
A488S Uncertain significance 0.105 benign 해석 →
A489V Uncertain significance 0.218 benign 해석 →
A490V Uncertain significance 0.206 benign 해석 →
A493V Uncertain significance 0.187 benign 해석 →
A495T Uncertain significance 0.097 benign 해석 →
A53V Uncertain significance 0.200 benign 해석 →
A61V Conflicting classifications of pathogeni 0.364 ambiguous 해석 →
A90D Uncertain significance 1.000 pathogenic 해석 →
A90T Uncertain significance 1.000 pathogenic 해석 →
A94V Uncertain significance 0.839 pathogenic 해석 →
C135S Uncertain significance 1.000 pathogenic 해석 →
C529R Uncertain significance 0.997 pathogenic 해석 →
D110E Uncertain significance 0.118 benign 해석 →
D143N Uncertain significance 0.983 pathogenic 해석 →
D178H Conflicting classifications of pathogeni 0.988 pathogenic 해석 →
D178N Uncertain significance 0.880 pathogenic 해석 →
D182N Conflicting classifications of pathogeni 0.682 pathogenic 해석 →
D187H Uncertain significance 0.597 pathogenic 해석 →
D187N Uncertain significance 0.253 benign 해석 →
D210N Uncertain significance 0.083 benign 해석 →
D225N Uncertain significance 0.732 pathogenic 해석 →
D261G Uncertain significance 0.360 ambiguous 해석 →
D311N Uncertain significance 0.901 pathogenic 해석 →
D430N Uncertain significance 0.385 ambiguous 해석 →
D481N Uncertain significance 0.545 ambiguous 해석 →
D75N Uncertain significance 0.980 pathogenic 해석 →
D96E Uncertain significance 0.159 benign 해석 →
E185K Uncertain significance 0.870 pathogenic 해석 →
E185Q Uncertain significance 0.634 pathogenic 해석 →
E193D Uncertain significance 0.059 benign 해석 →
E193K Uncertain significance 0.621 pathogenic 해석 →
E327K Uncertain significance 0.687 pathogenic 해석 →
E458K Uncertain significance 0.536 ambiguous 해석 →
F546S Uncertain significance 0.922 pathogenic 해석 →
G103R Uncertain significance 1.000 pathogenic 해석 →
G147V Uncertain significance 1.000 pathogenic 해석 →
G149D Uncertain significance 1.000 pathogenic 해석 →
G14E Uncertain significance 0.988 pathogenic 해석 →
G20S Uncertain significance 0.085 benign 해석 →
G211D Uncertain significance 0.136 benign 해석 →
G211S Uncertain significance 0.074 benign 해석 →
G215S Uncertain significance 0.079 benign 해석 →
G21C Uncertain significance 0.475 ambiguous 해석 →
G231S Uncertain significance 0.448 ambiguous 해석 →
G249R Uncertain significance 0.358 ambiguous 해석 →
G249V Uncertain significance 0.112 benign 해석 →
G270R Uncertain significance 0.691 pathogenic 해석 →
G307S Uncertain significance 0.170 benign 해석 →
G319R Uncertain significance 0.806 pathogenic 해석 →
G319V Uncertain significance 0.295 benign 해석 →
G331R Uncertain significance 0.647 pathogenic 해석 →
G331S Uncertain significance 0.067 benign 해석 →
G343R Uncertain significance 0.751 pathogenic 해석 →
G34R Uncertain significance 0.873 pathogenic 해석 →
G351R Uncertain significance 0.748 pathogenic 해석 →
G351S Uncertain significance 0.090 benign 해석 →
G35A Uncertain significance 0.142 benign 해석 →
G35D Uncertain significance 0.768 pathogenic 해석 →
G35S Uncertain significance 0.095 benign 해석 →
G36D Uncertain significance 0.775 pathogenic 해석 →
G372C Uncertain significance 0.185 benign 해석 →
G375C Uncertain significance 0.182 benign 해석 →
G376D Uncertain significance 0.297 benign 해석 →
G379R Uncertain significance 0.400 ambiguous 해석 →
G382E Uncertain significance 0.245 benign 해석 →
G385E Uncertain significance 0.262 benign 해석 →
G386A Uncertain significance 0.071 benign 해석 →
G386D Uncertain significance 0.260 benign 해석 →
G386S Uncertain significance 0.077 benign 해석 →
G389C Uncertain significance 0.203 benign 해석 →
G389D Uncertain significance 0.319 benign 해석 →
G389S Uncertain significance 0.078 benign 해석 →
G410C Uncertain significance 0.128 benign 해석 →
G410D Uncertain significance 0.431 ambiguous 해석 →
G417E Uncertain significance 0.213 benign 해석 →
G418A Uncertain significance 0.066 benign 해석 →
G418V Uncertain significance 0.077 benign 해석 →
G421D Uncertain significance 0.239 benign 해석 →
G448S Uncertain significance 0.074 benign 해석 →
G449S Uncertain significance 0.081 benign 해석 →
G450A Uncertain significance 0.077 benign 해석 →
G452D Uncertain significance 0.274 benign 해석 →
G454A Uncertain significance 0.077 benign 해석 →
G468A Uncertain significance 0.309 benign 해석 →
G468D Uncertain significance 0.770 pathogenic 해석 →
G479D Uncertain significance 0.661 pathogenic 해석 →
G480R Uncertain significance 0.875 pathogenic 해석 →
G483A Uncertain significance 0.154 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.