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

SLC22A1: AM vs ClinVar 일치도

85 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
4
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
81
AM ↔ ClinVar 비교 가능 변이 4건 중 4건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A370T Uncertain significance 0.077 benign 해석 →
A67V Uncertain significance 0.090 benign 해석 →
A80T Uncertain significance 0.075 benign 해석 →
A83D Uncertain significance 0.085 benign 해석 →
A99S Uncertain significance 0.068 benign 해석 →
C473Y Uncertain significance 0.713 pathogenic 해석 →
D123N Uncertain significance 0.112 benign 해석 →
D303G Uncertain significance 0.102 benign 해석 →
E323K Uncertain significance 0.091 benign 해석 →
E323Q Uncertain significance 0.101 benign 해석 →
E328K Uncertain significance 0.089 benign 해석 →
E57K Uncertain significance 0.118 benign 해석 →
E57Q Uncertain significance 0.096 benign 해석 →
F151L Uncertain significance 0.727 pathogenic 해석 →
F169L Uncertain significance 0.277 benign 해석 →
F422S Uncertain significance 0.317 benign 해석 →
F485V Uncertain significance 0.626 pathogenic 해석 →
F84I Uncertain significance 0.145 benign 해석 →
G131S Uncertain significance 0.117 benign 해석 →
G162D Uncertain significance 0.956 pathogenic 해석 →
G165C Benign 0.120 benign ✓ 해석 →
G165D Uncertain significance 0.773 pathogenic 해석 →
G247V Uncertain significance 0.774 pathogenic 해석 →
G253R Uncertain significance 0.840 pathogenic 해석 →
G373R Uncertain significance 0.196 benign 해석 →
I365T Uncertain significance 0.747 pathogenic 해석 →
I434M Uncertain significance 0.115 benign 해석 →
I446V Uncertain significance 0.118 benign 해석 →
I7V Likely benign 0.090 benign ✓ 해석 →
K311N Uncertain significance 0.362 ambiguous 해석 →
K526M Uncertain significance 0.143 benign 해석 →
K526N Uncertain significance 0.184 benign 해석 →
K538R Uncertain significance 0.071 benign 해석 →
L180P Uncertain significance 0.597 pathogenic 해석 →
L25S Uncertain significance 0.497 ambiguous 해석 →
L350P Uncertain significance 0.912 pathogenic 해석 →
L375F Uncertain significance 0.237 benign 해석 →
L411F Uncertain significance 0.100 benign 해석 →
L42R Uncertain significance 0.647 pathogenic 해석 →
L505F Uncertain significance 0.119 benign 해석 →
L70V Uncertain significance 0.117 benign 해석 →
M200R Uncertain significance 0.096 benign 해석 →
M351I Uncertain significance 0.653 pathogenic 해석 →
M368I Uncertain significance 0.398 ambiguous 해석 →
M368L Uncertain significance 0.163 benign 해석 →
M368T Uncertain significance 0.222 benign 해석 →
M408I Uncertain significance 0.160 benign 해석 →
M408V Benign 0.062 benign ✓ 해석 →
M440I Benign 0.541 ambiguous 해석 →
N112S Uncertain significance 0.073 benign 해석 →
N530D Uncertain significance 0.098 benign 해석 →
P313L Uncertain significance 0.071 benign 해석 →
P79L Uncertain significance 0.073 benign 해석 →
R175C Uncertain significance 0.619 pathogenic 해석 →
R175L Uncertain significance 0.810 pathogenic 해석 →
R346C Uncertain significance 0.175 benign 해석 →
R346G Uncertain significance 0.343 ambiguous 해석 →
R346H Likely benign 0.110 benign ✓ 해석 →
R399H Uncertain significance 0.120 benign 해석 →
R439Q Uncertain significance 0.413 ambiguous 해석 →
R89G Uncertain significance 0.122 benign 해석 →
S114N Uncertain significance 0.174 benign 해석 →
S213T Uncertain significance 0.146 benign 해석 →
S269C Uncertain significance 0.154 benign 해석 →
S358C Uncertain significance 0.147 benign 해석 →
S471F Uncertain significance 0.398 ambiguous 해석 →
S65R Uncertain significance 0.427 ambiguous 해석 →
T235M Uncertain significance 0.088 benign 해석 →
T252I Uncertain significance 0.325 benign 해석 →
T396I Uncertain significance 0.258 benign 해석 →
T480N Uncertain significance 0.498 ambiguous 해석 →
T541M Uncertain significance 0.090 benign 해석 →
T554A Uncertain significance 0.068 benign 해석 →
T554I Uncertain significance 0.090 benign 해석 →
V11A Uncertain significance 0.158 benign 해석 →
V40I Uncertain significance 0.101 benign 해석 →
V490F Uncertain significance 0.099 benign 해석 →
V55L Uncertain significance 0.275 benign 해석 →
W280C Uncertain significance 0.459 ambiguous 해석 →
W491C Uncertain significance 0.694 pathogenic 해석 →
Y168C Uncertain significance 0.128 benign 해석 →
Y168H Uncertain significance 0.281 benign 해석 →
Y72C Uncertain significance 0.267 benign 해석 →
F138V - 0.856 pathogenic 해석 →
Y127C - 0.773 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.