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

SLC23A1: AM vs ClinVar 일치도

74 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
68
AM ↔ ClinVar 비교 가능 변이 6건 중 6건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A118T Uncertain significance 0.168 benign 해석 →
A327T Uncertain significance 0.850 pathogenic 해석 →
A370T Uncertain significance 0.308 benign 해석 →
A404V Uncertain significance 0.951 pathogenic 해석 →
D18E Uncertain significance 0.076 benign 해석 →
D205N Uncertain significance 0.081 benign 해석 →
D280N Uncertain significance 0.073 benign 해석 →
D291N Uncertain significance 0.477 ambiguous 해석 →
D536E Likely benign 0.081 benign ✓ 해석 →
D577Y Uncertain significance 0.082 benign 해석 →
D584N Uncertain significance 0.065 benign 해석 →
E36K Uncertain significance 0.692 pathogenic 해석 →
E8K Benign 0.095 benign ✓ 해석 →
F286L Uncertain significance 0.885 pathogenic 해석 →
F449C Uncertain significance 0.598 pathogenic 해석 →
F49C Uncertain significance 0.261 benign 해석 →
G137S Uncertain significance 0.128 benign 해석 →
G411S Uncertain significance 0.668 pathogenic 해석 →
G414S Uncertain significance 0.197 benign 해석 →
G443R Uncertain significance 0.999 pathogenic 해석 →
G443V Uncertain significance 0.990 pathogenic 해석 →
G84S Uncertain significance 0.281 benign 해석 →
H13Y Uncertain significance 0.080 benign 해석 →
H147Y Uncertain significance 0.114 benign 해석 →
H354Y Uncertain significance 0.567 pathogenic 해석 →
I102N Uncertain significance 0.550 ambiguous 해석 →
I333T Uncertain significance 0.386 ambiguous 해석 →
I439T Uncertain significance 0.976 pathogenic 해석 →
I552L Uncertain significance 0.061 benign 해석 →
I579T Uncertain significance 0.061 benign 해석 →
I581V Likely benign 0.058 benign ✓ 해석 →
L141P Uncertain significance 0.226 benign 해석 →
L447V Uncertain significance 0.415 ambiguous 해석 →
L458F Uncertain significance 0.913 pathogenic 해석 →
M258V Benign 0.061 benign ✓ 해석 →
M452K Uncertain significance 0.952 pathogenic 해석 →
M537T Likely benign 0.055 benign ✓ 해석 →
M550T Uncertain significance 0.412 ambiguous 해석 →
N473S Uncertain significance 0.059 benign 해석 →
P105L Uncertain significance 0.982 pathogenic 해석 →
P19R Uncertain significance 0.070 benign 해석 →
P27L Uncertain significance 0.096 benign 해석 →
P351T Uncertain significance 0.967 pathogenic 해석 →
P352T Uncertain significance 0.861 pathogenic 해석 →
P479S Uncertain significance 0.107 benign 해석 →
P547R Uncertain significance 0.851 pathogenic 해석 →
Q12E Uncertain significance 0.062 benign 해석 →
Q250L Uncertain significance 0.368 ambiguous 해석 →
Q287R Uncertain significance 0.062 benign 해석 →
R10W Uncertain significance 0.113 benign 해석 →
R152Q Uncertain significance 0.599 pathogenic 해석 →
R154Q Uncertain significance 0.095 benign 해석 →
R17S Uncertain significance 0.130 benign 해석 →
R206Q Uncertain significance 0.210 benign 해석 →
R229C Uncertain significance 0.206 benign 해석 →
R248C Uncertain significance 0.192 benign 해석 →
S381T Uncertain significance 0.532 ambiguous 해석 →
S422L Uncertain significance 0.318 benign 해석 →
S464A Uncertain significance 0.078 benign 해석 →
S593C Uncertain significance 0.090 benign 해석 →
S593P Uncertain significance 0.080 benign 해석 →
T315M Uncertain significance 0.100 benign 해석 →
T470M Uncertain significance 0.067 benign 해석 →
T88A Uncertain significance 0.099 benign 해석 →
V165M Likely benign 0.069 benign ✓ 해석 →
V192I Uncertain significance 0.107 benign 해석 →
V276A Uncertain significance 0.126 benign 해석 →
V276M Uncertain significance 0.123 benign 해석 →
V38M Uncertain significance 0.166 benign 해석 →
V400M Uncertain significance 0.613 pathogenic 해석 →
V460L Uncertain significance 0.701 pathogenic 해석 →
Y269H Uncertain significance 0.227 benign 해석 →
Y402D Uncertain significance 0.913 pathogenic 해석 →
Y544C Uncertain significance 0.927 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.