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

CHRM2: AM vs ClinVar 일치도

134 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
7
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
127
AM ↔ ClinVar 비교 가능 변이 7건 중 7건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A158V Uncertain significance 0.829 pathogenic 해석 →
A193T Uncertain significance 0.740 pathogenic 해석 →
A265V Uncertain significance 0.073 benign 해석 →
A414P Uncertain significance 0.121 benign 해석 →
A464T Uncertain significance 0.097 benign 해석 →
C324Y Uncertain significance 0.147 benign 해석 →
C416W Uncertain significance 0.992 pathogenic 해석 →
C429S Uncertain significance 0.995 pathogenic 해석 →
D220E Likely benign 0.087 benign ✓ 해석 →
D229G Uncertain significance 0.111 benign 해석 →
D253N Likely benign 0.069 benign ✓ 해석 →
D304V Uncertain significance 0.089 benign 해석 →
D97H Uncertain significance 0.998 pathogenic 해석 →
E175D Uncertain significance 0.286 benign 해석 →
E223D Uncertain significance 0.103 benign 해석 →
E279D Uncertain significance 0.086 benign 해석 →
E305G Uncertain significance 0.062 benign 해석 →
E318K Uncertain significance 0.083 benign 해석 →
F152V Uncertain significance 0.633 pathogenic 해석 →
F21L Uncertain significance 0.245 benign 해석 →
G174A Uncertain significance 0.376 ambiguous 해석 →
G238A Uncertain significance 0.199 benign 해석 →
G254V Uncertain significance 0.069 benign 해석 →
G277E Uncertain significance 0.097 benign 해석 →
G277R Uncertain significance 0.147 benign 해석 →
G73S Uncertain significance 0.995 pathogenic 해석 →
H208Y Uncertain significance 0.169 benign 해석 →
H458Y Uncertain significance 0.192 benign 해석 →
H53Y Uncertain significance 0.285 benign 해석 →
I153V Uncertain significance 0.066 benign 해석 →
I178L Uncertain significance 0.883 pathogenic 해석 →
I201S Uncertain significance 0.809 pathogenic 해석 →
I217V Uncertain significance 0.079 benign 해석 →
I240M Uncertain significance 0.070 benign 해석 →
I240T Uncertain significance 0.129 benign 해석 →
I325F Uncertain significance 0.117 benign 해석 →
I360M Uncertain significance 0.070 benign 해석 →
I365T Uncertain significance 0.920 pathogenic 해석 →
I397V Uncertain significance 0.091 benign 해석 →
I39F Uncertain significance 0.213 benign 해석 →
I39N Uncertain significance 0.944 pathogenic 해석 →
I435V Uncertain significance 0.064 benign 해석 →
I72L Uncertain significance 0.663 pathogenic 해석 →
I86T Uncertain significance 0.111 benign 해석 →
I86V Uncertain significance 0.086 benign 해석 →
K138E Uncertain significance 0.793 pathogenic 해석 →
K218E Uncertain significance 0.315 benign 해석 →
K264N Uncertain significance 0.378 ambiguous 해석 →
K383R Uncertain significance 0.089 benign 해석 →
K448R Uncertain significance 0.113 benign 해석 →
L129V Uncertain significance 0.695 pathogenic 해석 →
L235M Likely benign 0.092 benign ✓ 해석 →
L312Q Uncertain significance 0.052 benign 해석 →
L455I Uncertain significance 0.387 ambiguous 해석 →
M139K Uncertain significance 0.488 ambiguous 해석 →
M139V Uncertain significance 0.162 benign 해석 →
M142I Uncertain significance 0.365 ambiguous 해석 →
M1K Uncertain significance 0.250 benign 해석 →
M456I Uncertain significance 0.252 benign 해석 →
M456L Uncertain significance 0.053 benign 해석 →
N227S Uncertain significance 0.060 benign 해석 →
N246K Uncertain significance 0.464 ambiguous 해석 →
N258S Benign/Likely benign 0.058 benign ✓ 해석 →
N306H Uncertain significance 0.073 benign 해석 →
N341D Uncertain significance 0.081 benign 해석 →
N353D Uncertain significance 0.104 benign 해석 →
N3S Uncertain significance 0.063 benign 해석 →
P224S Uncertain significance 0.100 benign 해석 →
P230T Uncertain significance 0.068 benign 해석 →
P243T Uncertain significance 0.131 benign 해석 →
P249S Uncertain significance 0.082 benign 해석 →
P372A Likely benign 0.127 benign ✓ 해석 →
P378L Uncertain significance 0.099 benign 해석 →
P379S Uncertain significance 0.148 benign 해석 →
P402L Uncertain significance 0.988 pathogenic 해석 →
P415A Uncertain significance 0.069 benign 해석 →
P415S Uncertain significance 0.068 benign 해석 →
Q237E Uncertain significance 0.085 benign 해석 →
Q352K Uncertain significance 0.071 benign 해석 →
Q358H Uncertain significance 0.299 benign 해석 →
Q358H Uncertain significance 0.299 benign 해석 →
Q371H Uncertain significance 0.290 benign 해석 →
R135Q Uncertain significance 0.975 pathogenic 해석 →
R135W Uncertain significance 0.995 pathogenic 해석 →
R211Q Uncertain significance 0.096 benign 해석 →
R239K Uncertain significance 0.065 benign 해석 →
R363C Uncertain significance 0.377 ambiguous 해석 →
R363H Uncertain significance 0.229 benign 해석 →
R363S Uncertain significance 0.730 pathogenic 해석 →
R381L Uncertain significance 0.978 pathogenic 해석 →
R381Q Uncertain significance 0.893 pathogenic 해석 →
R381W Uncertain significance 0.958 pathogenic 해석 →
R52C Uncertain significance 0.846 pathogenic 해석 →
S16N Uncertain significance 0.147 benign 해석 →
S210F Uncertain significance 0.724 pathogenic 해석 →
S213N Uncertain significance 0.972 pathogenic 해석 →
S315P Uncertain significance 0.071 benign 해석 →
S32F Uncertain significance 0.313 benign 해석 →
S349T Uncertain significance 0.060 benign 해석 →
S34I Uncertain significance 0.987 pathogenic 해석 →
S76C Uncertain significance 0.932 pathogenic 해석 →
T15K Uncertain significance 0.082 benign 해석 →
T190M Uncertain significance 0.961 pathogenic 해석 →
T203I Uncertain significance 0.174 benign 해석 →
T287S Conflicting classifications of pathogeni 0.106 benign 해석 →
T329I Uncertain significance 0.220 benign 해석 →
T331P Uncertain significance 0.074 benign 해석 →
T331S Uncertain significance 0.073 benign 해석 →
T331S Benign 0.073 benign ✓ 해석 →
T420S Uncertain significance 0.123 benign 해석 →
T465I Uncertain significance 0.436 ambiguous 해석 →
T5A Uncertain significance 0.062 benign 해석 →
V133I Uncertain significance 0.108 benign 해석 →
V166I Uncertain significance 0.185 benign 해석 →
V168M Uncertain significance 0.118 benign 해석 →
V171G Uncertain significance 0.947 pathogenic 해석 →
V204M Uncertain significance 0.129 benign 해석 →
V225D Conflicting classifications of pathogeni 0.167 benign 해석 →
V225I Uncertain significance 0.074 benign 해석 →
V231A Uncertain significance 0.106 benign 해석 →
V231I Benign/Likely benign 0.073 benign ✓ 해석 →
V23L Uncertain significance 0.329 benign 해석 →
V23M Uncertain significance 0.179 benign 해석 →
V241A Uncertain significance 0.165 benign 해석 →
V292I Uncertain significance 0.077 benign 해석 →
V344A Uncertain significance 0.134 benign 해석 →
V344G Uncertain significance 0.184 benign 해석 →
V344M Uncertain significance 0.117 benign 해석 →
V346L Uncertain significance 0.102 benign 해석 →
V36L Uncertain significance 0.333 benign 해석 →
V57I Uncertain significance 0.134 benign 해석 →
W162C Uncertain significance 0.999 pathogenic 해석 →
Y83D Uncertain significance 0.944 pathogenic 해석 →
M296I - 0.101 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.