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

BMP4: AM vs ClinVar 일치도

186 변이
✓ 둘 다 병원성
3
✓ 둘 다 양성
8
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
174
AM ↔ ClinVar 비교 가능 변이 12건 중 11건 일치 / 1건 불일치 — 일치도 91.7%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A346V Uncertain significance 0.812 pathogenic 해석 →
C373Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
E151V Pathogenic 0.983 pathogenic ✓ 해석 →
E93* Pathogenic — 미적재 해석 →
E93G Likely benign 0.136 benign ✓ 해석 →
H121R Conflicting classifications of pathogeni 0.746 pathogenic 해석 →
I178R Likely pathogenic 0.995 pathogenic ✓ 해석 →
R113G Pathogenic 0.206 benign ⚠ 해석 →
R198* Pathogenic — 미적재 해석 →
R226W Conflicting classifications of pathogeni 0.144 benign 해석 →
R256* Conflicting classifications of pathogeni — 미적재 해석 →
R286* Conflicting classifications of pathogeni — 미적재 해석 →
R287H Benign/Likely benign 0.137 benign ✓ 해석 →
R310C Uncertain significance 0.987 pathogenic 해석 →
S91C Conflicting classifications of pathogeni 0.280 benign 해석 →
T197I Uncertain significance 0.578 pathogenic 해석 →
W171* Conflicting classifications of pathogeni — 미적재 해석 →
W212* Likely pathogenic — 미적재 해석 →
A21T Uncertain significance 0.063 benign 해석 →
A220V Uncertain significance 0.601 pathogenic 해석 →
A235P Uncertain significance 0.982 pathogenic 해석 →
A301T Uncertain significance 0.065 benign 해석 →
A334D Uncertain significance 0.999 pathogenic 해석 →
A334T Uncertain significance 0.996 pathogenic 해석 →
A42P Conflicting classifications of pathogeni 0.089 benign 해석 →
A59E Uncertain significance 0.200 benign 해석 →
C14Y Uncertain significance 0.537 ambiguous 해석 →
C337Y Uncertain significance 1.000 pathogenic 해석 →
D166N Uncertain significance 0.077 benign 해석 →
D166Y Uncertain significance 0.122 benign 해석 →
D56E Uncertain significance 0.178 benign 해석 →
D56V Uncertain significance 0.493 ambiguous 해석 →
E123G Uncertain significance 0.616 pathogenic 해석 →
E151K Uncertain significance 0.984 pathogenic 해석 →
E237K Uncertain significance 0.519 ambiguous 해석 →
E37D Uncertain significance 0.075 benign 해석 →
E94K Uncertain significance 0.118 benign 해석 →
F142L Uncertain significance 0.997 pathogenic 해석 →
F161L Uncertain significance 0.929 pathogenic 해석 →
F215L Uncertain significance 0.989 pathogenic 해석 →
F343S Uncertain significance 0.998 pathogenic 해석 →
F57L Uncertain significance 0.991 pathogenic 해석 →
F57L Uncertain significance 0.991 pathogenic 해석 →
G103S Uncertain significance 0.066 benign 해석 →
G168R Conflicting classifications of pathogeni 0.175 benign 해석 →
G174D Uncertain significance 0.470 ambiguous 해석 →
G174S Uncertain significance 0.185 benign 해석 →
G20D Uncertain significance 0.159 benign 해석 →
G20S Uncertain significance 0.088 benign 해석 →
G261R Uncertain significance 0.197 benign 해석 →
G40D Likely benign 0.156 benign ✓ 해석 →
G40S Conflicting classifications of pathogeni 0.084 benign 해석 →
G66E Uncertain significance 0.962 pathogenic 해석 →
H121Y Uncertain significance 0.291 benign 해석 →
H125D Uncertain significance 0.175 benign 해석 →
H125Y Uncertain significance 0.108 benign 해석 →
H247D Uncertain significance 0.144 benign 해석 →
H247P Uncertain significance 0.107 benign 해석 →
H251Y Conflicting classifications of pathogeni 0.859 pathogenic 해석 →
H277L Uncertain significance 0.599 pathogenic 해석 →
H277R Uncertain significance 0.565 pathogenic 해석 →
H282L Uncertain significance 0.131 benign 해석 →
H348Y Uncertain significance 0.877 pathogenic 해석 →
H41Q Uncertain significance 0.060 benign 해석 →
H51Q Uncertain significance 0.090 benign 해석 →
I178V Uncertain significance 0.241 benign 해석 →
I27M Uncertain significance 0.410 ambiguous 해석 →
I2F Uncertain significance 0.132 benign 해석 →
I99V Uncertain significance 0.071 benign 해석 →
K228R Uncertain significance 0.069 benign 해석 →
K34R Uncertain significance 0.091 benign 해석 →
K391E Uncertain significance 0.860 pathogenic 해석 →
K75R Uncertain significance 0.071 benign 해석 →
L144V Uncertain significance 0.096 benign 해석 →
L195F Uncertain significance 0.151 benign 해석 →
L234I Uncertain significance 0.159 benign 해석 →
L384V Uncertain significance 0.947 pathogenic 해석 →
L62V Uncertain significance 0.913 pathogenic 해석 →
L67Q Uncertain significance 0.955 pathogenic 해석 →
M64L Uncertain significance 0.415 ambiguous 해석 →
M83R Uncertain significance 0.994 pathogenic 해석 →
N128S Uncertain significance 0.081 benign 해석 →
N135D Uncertain significance 0.085 benign 해석 →
N150K Uncertain significance 0.193 benign 해석 →
N208S Uncertain significance 0.119 benign 해석 →
N231D Uncertain significance 0.828 pathogenic 해석 →
N264S Uncertain significance 0.071 benign 해석 →
N305Y Uncertain significance 0.183 benign 해석 →
N353S Uncertain significance 0.615 pathogenic 해석 →
N362S Uncertain significance 0.522 ambiguous 해석 →
N365S Uncertain significance 0.229 benign 해석 →
N5S Uncertain significance 0.097 benign 해석 →
P110L Uncertain significance 0.118 benign 해석 →
P148S Uncertain significance 0.656 pathogenic 해석 →
P186T Uncertain significance 0.142 benign 해석 →
P187L Uncertain significance 0.110 benign 해석 →
P80R Uncertain significance 0.990 pathogenic 해석 →
Q15E Uncertain significance 0.159 benign 해석 →
Q243H Uncertain significance 0.125 benign 해석 →
Q72L Uncertain significance 0.149 benign 해석 →
Q72R Conflicting classifications of pathogeni 0.090 benign 해석 →
Q98H Uncertain significance 0.088 benign 해석 →
Q98R Uncertain significance 0.072 benign 해석 →
R109H Uncertain significance 0.107 benign 해석 →
R109P Uncertain significance 0.344 ambiguous 해석 →
R113Q Uncertain significance 0.105 benign 해석 →
R139H Uncertain significance 0.105 benign 해석 →
R139L Uncertain significance 0.225 benign 해석 →
R159Q Uncertain significance 0.288 benign 해석 →
R159W Uncertain significance 0.482 ambiguous 해석 →
R162Q Conflicting classifications of pathogeni 0.657 pathogenic 해석 →
R162W Uncertain significance 0.865 pathogenic 해석 →
R177C Uncertain significance 0.831 pathogenic 해석 →
R177H Uncertain significance 0.634 pathogenic 해석 →
R198Q Uncertain significance 0.192 benign 해석 →
R211Q Uncertain significance 0.077 benign 해석 →
R223C Uncertain significance 0.488 ambiguous 해석 →
R223H Uncertain significance 0.175 benign 해석 →
R226L Uncertain significance 0.126 benign 해석 →
R226Q Conflicting classifications of pathogeni 0.065 benign 해석 →
R245Q Uncertain significance 0.070 benign 해석 →
R245W Uncertain significance 0.141 benign 해석 →
R256Q Uncertain significance 0.584 pathogenic 해석 →
R269Q Likely benign 0.314 benign ✓ 해석 →
R280P Uncertain significance 0.701 pathogenic 해석 →
R280Q Uncertain significance 0.104 benign 해석 →
R280W Conflicting classifications of pathogeni 0.291 benign 해석 →
R286Q Uncertain significance 0.119 benign 해석 →
R287C Uncertain significance 0.484 ambiguous 해석 →
R288Q Conflicting classifications of pathogeni 0.100 benign 해석 →
R288W Uncertain significance 0.275 benign 해석 →
R300Q Uncertain significance 0.130 benign 해석 →
R300W Conflicting classifications of pathogeni 0.291 benign 해석 →
R408H Uncertain significance 0.955 pathogenic 해석 →
R55Q Uncertain significance 0.091 benign 해석 →
R55W Uncertain significance 0.256 benign 해석 →
R6Q Uncertain significance 0.364 ambiguous 해석 →
R70C Uncertain significance 0.982 pathogenic 해석 →
R84Q Uncertain significance 0.096 benign 해석 →
R84W Uncertain significance 0.144 benign 해석 →
R88W Uncertain significance 0.147 benign 해석 →
S133N Uncertain significance 0.085 benign 해석 →
S136C Uncertain significance 0.145 benign 해석 →
S146G Uncertain significance 0.109 benign 해석 →
S154F Conflicting classifications of pathogeni 0.608 pathogenic 해석 →
S218R Uncertain significance 0.970 pathogenic 해석 →
S255N Uncertain significance 0.624 pathogenic 해석 →
S257L Uncertain significance 0.455 ambiguous 해석 →
S257P Uncertain significance 0.785 pathogenic 해석 →
S262N Uncertain significance 0.081 benign 해석 →
S293G Uncertain significance 0.106 benign 해석 →
S298A Uncertain significance 0.067 benign 해석 →
S312L Uncertain significance 0.175 benign 해석 →
S363F Uncertain significance 0.989 pathogenic 해석 →
S367R Conflicting classifications of pathogeni 0.450 ambiguous 해석 →
S74G Uncertain significance 0.070 benign 해석 →
S76R Benign 0.283 benign ✓ 해석 →
T102A Uncertain significance 0.057 benign 해석 →
T102I Conflicting classifications of pathogeni 0.088 benign 해석 →
T132A Likely benign 0.063 benign ✓ 해석 →
T132S Uncertain significance 0.065 benign 해석 →
T202M Uncertain significance 0.790 pathogenic 해석 →
T225A Conflicting classifications of pathogeni 0.124 benign 해석 →
T225S Uncertain significance 0.165 benign 해석 →
T244I Likely benign 0.189 benign ✓ 해석 →
T246S Uncertain significance 0.076 benign 해석 →
T285I Uncertain significance 0.198 benign 해석 →
T30A Uncertain significance 0.065 benign 해석 →
T30M Uncertain significance 0.105 benign 해석 →
T359I Uncertain significance 0.997 pathogenic 해석 →
T376A Uncertain significance 0.853 pathogenic 해석 →
V10F Uncertain significance 0.278 benign 해석 →
V117L Uncertain significance 0.750 pathogenic 해석 →
V152A Benign/Likely benign 0.132 benign ✓ 해석 →
V183A Uncertain significance 0.768 pathogenic 해석 →
V183I Uncertain significance 0.086 benign 해석 →
V190M Uncertain significance 0.087 benign 해석 →
V205A Uncertain significance 0.820 pathogenic 해석 →
V273A Uncertain significance 0.894 pathogenic 해석 →
V273I Uncertain significance 0.152 benign 해석 →
V273L Uncertain significance 0.618 pathogenic 해석 →
V327L Uncertain significance 0.899 pathogenic 해석 →
V327M Uncertain significance 0.871 pathogenic 해석 →
W224* Uncertain significance — 미적재 해석 →
Y397N Uncertain significance 0.994 pathogenic 해석 →
L26M - 0.341 ambiguous 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.