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

UCP2: AM vs ClinVar 일치도

85 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
80
AM ↔ ClinVar 비교 가능 변이 5건 중 5건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A134S Uncertain significance 0.432 ambiguous 해석 →
A146P Uncertain significance 0.991 pathogenic 해석 →
A150T Likely benign 0.073 benign ✓ 해석 →
A20T Uncertain significance 0.881 pathogenic 해석 →
A20V Uncertain significance 0.931 pathogenic 해석 →
A268G Likely benign 0.239 benign ✓ 해석 →
A27T Uncertain significance 0.979 pathogenic 해석 →
A27V Uncertain significance 0.992 pathogenic 해석 →
A55V Benign 0.098 benign ✓ 해석 →
A57T Conflicting classifications of pathogeni 0.067 benign 해석 →
A6T Uncertain significance 0.085 benign 해석 →
C25R Uncertain significance 0.998 pathogenic 해석 →
D202Y Uncertain significance 0.444 ambiguous 해석 →
D213A Uncertain significance 0.340 benign 해석 →
D8G Uncertain significance 0.124 benign 해석 →
F269S Uncertain significance 0.986 pathogenic 해석 →
G110C Uncertain significance 0.419 ambiguous 해석 →
G171R Uncertain significance 0.985 pathogenic 해석 →
G19R Uncertain significance 0.981 pathogenic 해석 →
G265V Uncertain significance 0.985 pathogenic 해석 →
G3V Uncertain significance 0.216 benign 해석 →
G61S Uncertain significance 0.429 ambiguous 해석 →
H113Y Uncertain significance 0.121 benign 해석 →
I66V Uncertain significance 0.111 benign 해석 →
K104E Uncertain significance 0.972 pathogenic 해석 →
K201R Uncertain significance 0.473 ambiguous 해석 →
L121V Uncertain significance 0.148 benign 해석 →
L18P Uncertain significance 0.914 pathogenic 해석 →
L199F Uncertain significance 0.156 benign 해석 →
L204F Uncertain significance 0.291 benign 해석 →
L278F Uncertain significance 0.319 benign 해석 →
M1V Uncertain significance 0.129 benign 해석 →
M243V Uncertain significance 0.761 pathogenic 해석 →
M90I Uncertain significance 0.692 pathogenic 해석 →
N186S Uncertain significance 0.474 ambiguous 해석 →
N190S Uncertain significance 0.466 ambiguous 해석 →
N208S Uncertain significance 0.077 benign 해석 →
P11S Uncertain significance 0.349 ambiguous 해석 →
P215T Uncertain significance 0.194 benign 해석 →
P50L Uncertain significance 0.100 benign 해석 →
P75S Uncertain significance 0.309 benign 해석 →
Q135R Uncertain significance 0.978 pathogenic 해석 →
R119C Uncertain significance 0.666 pathogenic 해석 →
R119H Uncertain significance 0.577 pathogenic 해석 →
R143* Uncertain significance — 미적재 해석 →
R143Q Uncertain significance 0.868 pathogenic 해석 →
R149Q Likely benign 0.112 benign ✓ 해석 →
R149W Uncertain significance 0.319 benign 해석 →
R168Q Uncertain significance 0.083 benign 해석 →
R173Q Uncertain significance 0.108 benign 해석 →
R173W Uncertain significance 0.147 benign 해석 →
R185H Uncertain significance 0.989 pathogenic 해석 →
R267* Uncertain significance — 미적재 해석 →
R267Q Uncertain significance 0.085 benign 해석 →
R296Q Uncertain significance 0.158 benign 해석 →
R305Q Uncertain significance 0.079 benign 해석 →
R40Q Uncertain significance 0.846 pathogenic 해석 →
R40W Uncertain significance 0.932 pathogenic 해석 →
R52C Uncertain significance 0.178 benign 해석 →
R60H Uncertain significance 0.113 benign 해석 →
R71C Uncertain significance 0.314 benign 해석 →
R71H Uncertain significance 0.141 benign 해석 →
R76* Uncertain significance — 미적재 해석 →
R76Q Benign/Likely benign 0.102 benign ✓ 해석 →
R88H Uncertain significance 0.983 pathogenic 해석 →
R96C Uncertain significance 0.956 pathogenic 해석 →
R96G Uncertain significance 0.988 pathogenic 해석 →
S276T Uncertain significance 0.537 ambiguous 해석 →
S282P Uncertain significance 0.925 pathogenic 해석 →
S47N Uncertain significance 0.121 benign 해석 →
T137M Uncertain significance 0.768 pathogenic 해석 →
T179S Uncertain significance 0.274 benign 해석 →
T229A Likely benign 0.355 ambiguous 해석 →
T240A Uncertain significance 0.949 pathogenic 해석 →
V139M Uncertain significance 0.875 pathogenic 해석 →
V183F Uncertain significance 0.641 pathogenic 해석 →
V230L Uncertain significance 0.160 benign 해석 →
V237M Uncertain significance 0.901 pathogenic 해석 →
V238D Uncertain significance 0.998 pathogenic 해석 →
V285M Uncertain significance 0.518 ambiguous 해석 →
V39I Benign/Likely benign 0.485 ambiguous 해석 →
V51A Uncertain significance 0.068 benign 해석 →
V51M Uncertain significance 0.124 benign 해석 →
V95I Uncertain significance 0.088 benign 해석 →
Y270H Uncertain significance 0.888 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.