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

TGFB1: AM vs ClinVar 일치도

277 변이
✓ 둘 다 병원성
7
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
263
AM ↔ ClinVar 비교 가능 변이 14건 중 13건 일치 / 1건 불일치 — 일치도 92.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C223G Uncertain significance 0.839 pathogenic 해석 →
C223R Pathogenic 0.944 pathogenic ✓ 해석 →
C225R Pathogenic 0.970 pathogenic ✓ 해석 →
C387R Likely pathogenic 0.999 pathogenic ✓ 해석 →
R110C Likely pathogenic 0.850 pathogenic ✓ 해석 →
R156C Conflicting classifications of pathogeni 0.954 pathogenic 해석 →
R218C Pathogenic 0.545 ambiguous 해석 →
R218H Pathogenic/Likely pathogenic 0.280 benign ⚠ 해석 →
R45C Likely pathogenic 0.998 pathogenic ✓ 해석 →
Y171C Likely pathogenic 0.937 pathogenic ✓ 해석 →
Y299* Likely pathogenic — 미적재 해석 →
Y81H Pathogenic 0.982 pathogenic ✓ 해석 →
A101V Uncertain significance 0.127 benign 해석 →
A143V Uncertain significance 0.130 benign 해석 →
A153V Uncertain significance 0.772 pathogenic 해석 →
A221S Uncertain significance 0.109 benign 해석 →
A221T Uncertain significance 0.102 benign 해석 →
A268V Uncertain significance 0.145 benign 해석 →
A279T Uncertain significance 0.183 benign 해석 →
A341F Uncertain significance 0.900 pathogenic 해석 →
A341S Uncertain significance 0.124 benign 해석 →
A341T Uncertain significance 0.574 pathogenic 해석 →
A360V Uncertain significance 0.087 benign 해석 →
A60G Uncertain significance 0.132 benign 해석 →
C223S Uncertain significance 0.945 pathogenic 해석 →
C293F Uncertain significance 0.999 pathogenic 해석 →
C293Y Uncertain significance 1.000 pathogenic 해석 →
C387G Uncertain significance 0.995 pathogenic 해석 →
C387S Uncertain significance 1.000 pathogenic 해석 →
D102Y Uncertain significance 0.603 pathogenic 해석 →
D122N Uncertain significance 0.064 benign 해석 →
D191N Uncertain significance 0.074 benign 해석 →
D199A Uncertain significance 0.487 ambiguous 해석 →
D226N Uncertain significance 0.138 benign 해석 →
D229G Uncertain significance 0.117 benign 해석 →
D229N Uncertain significance 0.089 benign 해석 →
D229V Uncertain significance 0.182 benign 해석 →
D281N Uncertain significance 0.355 ambiguous 해석 →
D301H Uncertain significance 0.966 pathogenic 해석 →
D86E Uncertain significance 0.514 ambiguous 해석 →
D86H Uncertain significance 0.890 pathogenic 해석 →
D86Y Uncertain significance 0.786 pathogenic 해석 →
E100D Uncertain significance 0.116 benign 해석 →
E107K Uncertain significance 0.894 pathogenic 해석 →
E115K Uncertain significance 0.124 benign 해석 →
E146Q Uncertain significance 0.082 benign 해석 →
E169Q Uncertain significance 0.817 pathogenic 해석 →
E313D Uncertain significance 0.941 pathogenic 해석 →
E313K Uncertain significance 0.728 pathogenic 해석 →
E377K Uncertain significance 0.980 pathogenic 해석 →
E39A Uncertain significance 0.450 ambiguous 해석 →
E91G Uncertain significance 0.100 benign 해석 →
E91K Uncertain significance 0.121 benign 해석 →
E96K Uncertain significance 0.087 benign 해석 →
E98K Uncertain significance 0.134 benign 해석 →
E98Q Uncertain significance 0.097 benign 해석 →
F124V Uncertain significance 0.111 benign 해석 →
F239I Uncertain significance 0.080 benign 해석 →
G202R Uncertain significance 0.184 benign 해석 →
G238R Uncertain significance 0.946 pathogenic 해석 →
G242S Uncertain significance 0.062 benign 해석 →
G245S Uncertain significance 0.522 ambiguous 해석 →
G252S Uncertain significance 0.081 benign 해석 →
G29A Uncertain significance 0.078 benign 해석 →
G29E Conflicting classifications of pathogeni 0.448 ambiguous 해석 →
G29R Uncertain significance 0.682 pathogenic 해석 →
G29R Uncertain significance 0.682 pathogenic 해석 →
G307S Uncertain significance 0.452 ambiguous 해석 →
G324R Uncertain significance 1.000 pathogenic 해석 →
G349D Uncertain significance 0.624 pathogenic 해석 →
G349S Uncertain significance 0.178 benign 해석 →
G51C Uncertain significance 0.990 pathogenic 해석 →
G51R Uncertain significance 0.993 pathogenic 해석 →
G5R Uncertain significance 0.375 ambiguous 해석 →
G5R Uncertain significance 0.375 ambiguous 해석 →
G71D Uncertain significance 0.460 ambiguous 해석 →
G90W Uncertain significance 0.419 ambiguous 해석 →
H129R Uncertain significance 0.107 benign 해석 →
H167D Uncertain significance 0.673 pathogenic 해석 →
H222D not provided 0.830 pathogenic 해석 →
H222L Uncertain significance 0.591 pathogenic 해석 →
H222R Uncertain significance 0.526 ambiguous 해석 →
H251R Uncertain significance 0.085 benign 해석 →
H270Y Uncertain significance 0.106 benign 해석 →
H312Y Uncertain significance 0.728 pathogenic 해석 →
H318R Uncertain significance 0.154 benign 해석 →
I120M Uncertain significance 0.082 benign 해석 →
I131T Uncertain significance 0.192 benign 해석 →
I250S Uncertain significance 0.641 pathogenic 해석 →
I300L Uncertain significance 0.893 pathogenic 해석 →
I300T Uncertain significance 0.997 pathogenic 해석 →
I311V Uncertain significance 0.703 pathogenic 해석 →
I366M Uncertain significance 0.829 pathogenic 해석 →
I366T Uncertain significance 0.997 pathogenic 해석 →
I366V Uncertain significance 0.396 ambiguous 해석 →
I383F Uncertain significance 0.935 pathogenic 해석 →
I49S Uncertain significance 0.999 pathogenic 해석 →
I53T Uncertain significance 1.000 pathogenic 해석 →
K123E Uncertain significance 0.092 benign 해석 →
K123R Uncertain significance 0.071 benign 해석 →
K125R Uncertain significance 0.068 benign 해석 →
K161N Uncertain significance 0.244 benign 해석 →
K161Q Uncertain significance 0.101 benign 해석 →
K161R Uncertain significance 0.085 benign 해석 →
K161T Uncertain significance 0.138 benign 해석 →
K173E Uncertain significance 0.343 ambiguous 해석 →
K291T Uncertain significance 0.402 ambiguous 해석 →
K309R Uncertain significance 0.228 benign 해석 →
K315E Uncertain significance 0.476 ambiguous 해석 →
K315N Uncertain significance 0.832 pathogenic 해석 →
K315R Uncertain significance 0.096 benign 해석 →
K338T Uncertain significance 0.494 ambiguous 해석 →
K373R Uncertain significance 0.112 benign 해석 →
K375R Uncertain significance 0.108 benign 해석 →
K388N Uncertain significance 0.968 pathogenic 해석 →
K388R Uncertain significance 0.120 benign 해석 →
L11Q Uncertain significance 0.129 benign 해석 →
L13P Uncertain significance 0.078 benign 해석 →
L13Q Uncertain significance 0.139 benign 해석 →
L155M Uncertain significance 0.340 benign 해석 →
L160F Uncertain significance 0.091 benign 해석 →
L162S Uncertain significance 0.132 benign 해석 →
L19P Uncertain significance 0.089 benign 해석 →
L19R Uncertain significance 0.214 benign 해석 →
L259I Uncertain significance 0.301 benign 해석 →
L260P Uncertain significance 0.991 pathogenic 해석 →
L298P Uncertain significance 0.999 pathogenic 해석 →
L57M Uncertain significance 0.930 pathogenic 해석 →
M113T Uncertain significance 0.187 benign 해석 →
M133I Uncertain significance 0.525 ambiguous 해석 →
M133L Uncertain significance 0.153 benign 해석 →
M133V Uncertain significance 0.152 benign 해석 →
M261I Uncertain significance 0.931 pathogenic 해석 →
M261L Uncertain significance 0.307 benign 해석 →
M261T Uncertain significance 0.523 ambiguous 해석 →
M382T Uncertain significance 0.998 pathogenic 해석 →
M38T Uncertain significance 0.628 pathogenic 해석 →
M38V Uncertain significance 0.233 benign 해석 →
N136S Uncertain significance 0.106 benign 해석 →
N136Y Uncertain significance 0.393 ambiguous 해석 →
N176S Uncertain significance 0.082 benign 해석 →
N177D Uncertain significance 0.061 benign 해석 →
N184K Uncertain significance 0.647 pathogenic 해석 →
N283S Uncertain significance 0.060 benign 해석 →
N344T Uncertain significance 0.392 ambiguous 해석 →
N344Y Uncertain significance 0.609 pathogenic 해석 →
N381H Uncertain significance 0.550 ambiguous 해석 →
N381S Uncertain significance 0.188 benign 해석 →
P10L Benign 0.180 benign ✓ 해석 →
P10L Likely benign 0.180 benign ✓ 해석 →
P10L Likely benign 0.180 benign ✓ 해석 →
P10R Uncertain significance 0.138 benign 해석 →
P145S Uncertain significance 0.111 benign 해석 →
P147S Uncertain significance 0.126 benign 해석 →
P14Q Uncertain significance 0.256 benign 해석 →
P189S Uncertain significance 0.121 benign 해석 →
P264L Uncertain significance 0.890 pathogenic 해석 →
P26S Uncertain significance 0.090 benign 해석 →
P2H Uncertain significance 0.137 benign 해석 →
P2L Uncertain significance 0.140 benign 해석 →
P325A Uncertain significance 0.222 benign 해석 →
P354S Uncertain significance 0.977 pathogenic 해석 →
P354T Uncertain significance 0.984 pathogenic 해석 →
P358L Uncertain significance 0.991 pathogenic 해석 →
P363R Uncertain significance 0.942 pathogenic 해석 →
P62T Uncertain significance 0.561 ambiguous 해석 →
P63S Uncertain significance 0.966 pathogenic 해석 →
P69L Uncertain significance 0.143 benign 해석 →
P70L Uncertain significance 0.132 benign 해석 →
P72L Uncertain significance 0.161 benign 해석 →
P95Q Uncertain significance 0.082 benign 해석 →
P99S Uncertain significance 0.098 benign 해석 →
P99T Uncertain significance 0.074 benign 해석 →
Q126R Uncertain significance 0.069 benign 해석 →
Q335R Uncertain significance 0.517 ambiguous 해석 →
Q65* Uncertain significance — 미적재 해석 →
R141Q Uncertain significance 0.080 benign 해석 →
R152Q Conflicting classifications of pathogeni 0.121 benign 해석 →
R152W Uncertain significance 0.233 benign 해석 →
R156H Uncertain significance 0.608 pathogenic 해석 →
R180* Uncertain significance — 미적재 해석 →
R185Q Uncertain significance 0.066 benign 해석 →
R185W Uncertain significance 0.184 benign 해석 →
R205G Uncertain significance 0.203 benign 해석 →
R205W Uncertain significance 0.161 benign 해석 →
R210C Conflicting classifications of pathogeni 0.159 benign 해석 →
R210H Uncertain significance 0.057 benign 해석 →
R228G Uncertain significance 0.097 benign 해석 →
R228K Uncertain significance 0.054 benign 해석 →
R228S Uncertain significance 0.136 benign 해석 →
R243H Uncertain significance 0.102 benign 해석 →
R244* Uncertain significance — 미적재 해석 →
R255L Uncertain significance 0.282 benign 해석 →
R255Q Uncertain significance 0.104 benign 해석 →
R255W Uncertain significance 0.294 benign 해석 →
R25G Uncertain significance 0.072 benign 해석 →
R25P Benign 0.154 benign ✓ 해석 →
R25Q Uncertain significance 0.105 benign 해석 →
R275Q Uncertain significance 0.473 ambiguous 해석 →
R277C Uncertain significance 0.807 pathogenic 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.