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

MTNR1B: AM vs ClinVar 일치도

76 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
70
AM ↔ ClinVar 비교 가능 변이 6건 중 6건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A100T Uncertain significance 0.433 ambiguous 해석 →
A117T Uncertain significance 0.548 ambiguous 해석 →
A203S Uncertain significance 0.150 benign 해석 →
A234D Uncertain significance 0.244 benign 해석 →
A265V Uncertain significance 0.255 benign 해석 →
A28V Uncertain significance 0.082 benign 해석 →
A325V Benign 0.110 benign ✓ 해석 →
A336V Uncertain significance 0.084 benign 해석 →
A42P risk factor 0.255 benign 해석 →
A52V Uncertain significance 0.085 benign 해석 →
A74V Uncertain significance 0.219 benign 해석 →
C11Y Uncertain significance 0.245 benign 해석 →
C332Y Uncertain significance 0.101 benign 해석 →
E12K Uncertain significance 0.180 benign 해석 →
E182D Uncertain significance 0.231 benign 해석 →
E3D Uncertain significance 0.102 benign 해석 →
F102I Uncertain significance 0.195 benign 해석 →
F118L Uncertain significance 0.862 pathogenic 해석 →
F192S Uncertain significance 0.951 pathogenic 해석 →
F7I Uncertain significance 0.193 benign 해석 →
G105S Uncertain significance 0.150 benign 해석 →
G14D Uncertain significance 0.109 benign 해석 →
G14S Uncertain significance 0.102 benign 해석 →
G15E Uncertain significance 0.117 benign 해석 →
G179V Uncertain significance 0.704 pathogenic 해석 →
G24E Benign 0.099 benign ✓ 해석 →
G309E Uncertain significance 0.984 pathogenic 해석 →
G5S Uncertain significance 0.085 benign 해석 →
H149Q Uncertain significance 0.157 benign 해석 →
I134M Uncertain significance 0.368 ambiguous 해석 →
I142V Uncertain significance 0.236 benign 해석 →
I193N Uncertain significance 0.276 benign 해석 →
I270V Uncertain significance 0.177 benign 해석 →
I306N Uncertain significance 0.890 pathogenic 해석 →
I306V Uncertain significance 0.074 benign 해석 →
K243R Benign 0.081 benign ✓ 해석 →
K338N Uncertain significance 0.228 benign 해석 →
L166V Uncertain significance 0.108 benign 해석 →
L295S Uncertain significance 0.544 ambiguous 해석 →
L310F Uncertain significance 0.109 benign 해석 →
L60R risk factor 0.932 pathogenic 해석 →
N304S Uncertain significance 0.736 pathogenic 해석 →
N58D Uncertain significance 0.967 pathogenic 해석 →
N68K Uncertain significance 0.677 pathogenic 해석 →
P278A Uncertain significance 0.194 benign 해석 →
P283S Uncertain significance 0.083 benign 해석 →
P93S Uncertain significance 0.686 pathogenic 해석 →
P93T Uncertain significance 0.586 pathogenic 해석 →
P95L risk factor 0.509 ambiguous 해석 →
Q313E Uncertain significance 0.095 benign 해석 →
R150Q Uncertain significance 0.110 benign 해석 →
R153L Uncertain significance 0.212 benign 해석 →
R153Q Uncertain significance 0.094 benign 해석 →
R153W Uncertain significance 0.223 benign 해석 →
R154C Uncertain significance 0.178 benign 해석 →
R186C Uncertain significance 0.633 pathogenic 해석 →
R231H Likely benign 0.158 benign ✓ 해석 →
R231S Uncertain significance 0.442 ambiguous 해석 →
R29Q Likely benign 0.088 benign ✓ 해석 →
R316C Uncertain significance 0.392 ambiguous 해석 →
S249I Uncertain significance 0.341 ambiguous 해석 →
S2A Uncertain significance 0.074 benign 해석 →
T198N Likely benign 0.159 benign ✓ 해석 →
T201A Uncertain significance 0.284 benign 해석 →
T292I Uncertain significance 0.137 benign 해석 →
V215F Uncertain significance 0.262 benign 해석 →
V256A Uncertain significance 0.655 pathogenic 해석 →
V355E Uncertain significance 0.115 benign 해석 →
V99M Uncertain significance 0.182 benign 해석 →
Y141C Uncertain significance 0.199 benign 해석 →
Y200D Uncertain significance 0.887 pathogenic 해석 →
Y220F Uncertain significance 0.361 ambiguous 해석 →
Y294H Uncertain significance 0.828 pathogenic 해석 →
Y298C Uncertain significance 0.600 pathogenic 해석 →
Y308S risk factor 0.855 pathogenic 해석 →
D54Y - 0.917 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.