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

OPRM1: AM vs ClinVar 일치도

97 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
4
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
93
AM ↔ ClinVar 비교 가능 변이 4건 중 4건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A104D Uncertain significance 0.998 pathogenic 해석 →
A10T Uncertain significance 0.068 benign 해석 →
A177T drug response 0.956 pathogenic 해석 →
A186D Uncertain significance 1.000 pathogenic 해석 →
A18T Likely benign 0.069 benign ✓ 해석 →
A18V drug response 0.092 benign 해석 →
A199V drug response 0.122 benign 해석 →
A25E drug response 0.101 benign 해석 →
A289D drug response 0.996 pathogenic 해석 →
A5T Likely benign 0.069 benign ✓ 해석 →
A75P drug response 0.986 pathogenic 해석 →
A75V drug response 0.171 benign 해석 →
C172Y Uncertain significance 0.996 pathogenic 해석 →
C192F Likely benign 0.136 benign ✓ 해석 →
C253G drug response 0.933 pathogenic 해석 →
C348R Uncertain significance 0.986 pathogenic 해석 →
D38Y Uncertain significance 0.137 benign 해석 →
D43N Uncertain significance 0.095 benign 해석 →
E343* drug response — 미적재 해석 →
E343D Uncertain significance 0.482 ambiguous 해석 →
F125L Uncertain significance 0.992 pathogenic 해석 →
G215V Uncertain significance 0.653 pathogenic 해석 →
G255E Uncertain significance 0.995 pathogenic 해석 →
G327C Uncertain significance 0.997 pathogenic 해석 →
G54R Uncertain significance 0.119 benign 해석 →
H173Q Uncertain significance 0.965 pathogenic 해석 →
H387N drug response 0.072 benign 해석 →
I144L Uncertain significance 0.093 benign 해석 →
I144T Uncertain significance 0.150 benign 해석 →
I169S drug response 0.934 pathogenic 해석 →
I240T Uncertain significance 0.515 ambiguous 해석 →
I250T Uncertain significance 0.977 pathogenic 해석 →
I324V Uncertain significance 0.271 benign 해석 →
I360T Uncertain significance 0.057 benign 해석 →
K176N drug response 0.921 pathogenic 해석 →
L131R drug response 0.949 pathogenic 해석 →
L202F drug response 0.194 benign 해석 →
L248F drug response 0.232 benign 해석 →
L256R drug response 0.591 pathogenic 해석 →
L277P Uncertain significance 0.998 pathogenic 해석 →
L333F Uncertain significance 0.800 pathogenic 해석 →
L58P Uncertain significance 0.052 benign 해석 →
M132T Uncertain significance 0.559 ambiguous 해석 →
M266V Uncertain significance 0.258 benign 해석 →
M67V Uncertain significance 0.058 benign 해석 →
N330Y Uncertain significance 0.991 pathogenic 해석 →
N371S Uncertain significance 0.083 benign 해석 →
N40D Uncertain significance; drug response 0.155 benign 해석 →
N9K Uncertain significance 0.137 benign 해석 →
P174A Uncertain significance 0.976 pathogenic 해석 →
P174S Uncertain significance 0.997 pathogenic 해석 →
P246S drug response 0.999 pathogenic 해석 →
P355T Uncertain significance 0.210 benign 해석 →
P376S Uncertain significance 0.076 benign 해석 →
P61L drug response 0.090 benign 해석 →
P65L drug response 0.168 benign 해석 →
P65S drug response 0.102 benign 해석 →
Q214* drug response — 미적재 해석 →
R184* drug response — 미적재 해석 →
R184Q Uncertain significance 0.094 benign 해석 →
R260C Uncertain significance 0.928 pathogenic 해석 →
R265H Uncertain significance 0.649 pathogenic 해석 →
R275G Uncertain significance 0.809 pathogenic 해석 →
R275K Uncertain significance 0.148 benign 해석 →
R347* drug response — 미적재 해석 →
R347Q Uncertain significance 0.223 benign 해석 →
R350G Uncertain significance 0.494 ambiguous 해석 →
R373K Uncertain significance 0.099 benign 해석 →
R384G drug response 0.177 benign 해석 →
S147C Benign 0.536 ambiguous 해석 →
S23P Uncertain significance 0.068 benign 해석 →
S270F drug response 0.977 pathogenic 해석 →
S319Y Uncertain significance 0.782 pathogenic 해석 →
S331R Uncertain significance 0.999 pathogenic 해석 →
S365P Uncertain significance 0.152 benign 해석 →
S3G drug response 0.079 benign 해석 →
T134R Uncertain significance 0.353 ambiguous 해석 →
T14A Uncertain significance 0.063 benign 해석 →
T14S Likely benign 0.066 benign ✓ 해석 →
T210I drug response 0.705 pathogenic 해석 →
T372I Uncertain significance 0.111 benign 해석 →
T378M drug response 0.089 benign 해석 →
T381I Uncertain significance 0.187 benign 해석 →
T381P Uncertain significance 0.095 benign 해석 →
T385N drug response 0.087 benign 해석 →
T72M drug response 0.103 benign 해석 →
V165D Uncertain significance 0.997 pathogenic 해석 →
V175I drug response 0.134 benign 해석 →
V247M drug response 0.674 pathogenic 해석 →
V252G drug response 0.283 benign 해석 →
V252M Uncertain significance 0.225 benign 해석 →
W194* drug response — 미적재 해석 →
W320R drug response 0.989 pathogenic 해석 →
Y130N drug response 0.874 pathogenic 해석 →
Y212H Uncertain significance 0.135 benign 해석 →
Y254* drug response — 미적재 해석 →
Y254N drug response 0.959 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.