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

AGER: AM vs ClinVar 일치도

75 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
8
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
67
AM ↔ ClinVar 비교 가능 변이 8건 중 8건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A19G Uncertain significance 0.094 benign 해석 →
A355T Uncertain significance 0.099 benign 해석 →
A375S Uncertain significance 0.086 benign 해석 →
A375V Likely benign 0.071 benign ✓ 해석 →
A41V Uncertain significance 0.090 benign 해석 →
A6V Uncertain significance 0.136 benign 해석 →
A76V Uncertain significance 0.251 benign 해석 →
C144W Uncertain significance 0.960 pathogenic 해석 →
C301S Conflicting classifications of pathogeni 0.959 pathogenic 해석 →
C38W Uncertain significance 0.920 pathogenic 해석 →
E371D Uncertain significance 0.152 benign 해석 →
E392D Uncertain significance 0.109 benign 해석 →
E393K Uncertain significance 0.089 benign 해석 →
E398K Uncertain significance 0.087 benign 해석 →
F206S Uncertain significance 0.855 pathogenic 해석 →
G148R Uncertain significance 0.512 ambiguous 해석 →
G246D Uncertain significance 0.089 benign 해석 →
G247E Uncertain significance 0.191 benign 해석 →
G252S Uncertain significance 0.123 benign 해석 →
G309R Likely benign 0.083 benign ✓ 해석 →
G402E Uncertain significance 0.089 benign 해석 →
G403E Uncertain significance 0.098 benign 해석 →
G4R Uncertain significance 0.205 benign 해석 →
G56S Uncertain significance 0.186 benign 해석 →
G70C Uncertain significance 0.216 benign 해석 →
G70S Uncertain significance 0.074 benign 해석 →
G82S Uncertain significance 0.307 benign 해석 →
H180Y Uncertain significance 0.106 benign 해석 →
H305R Uncertain significance 0.090 benign 해석 →
I126S Uncertain significance 0.685 pathogenic 해석 →
I291T Uncertain significance 0.063 benign 해석 →
I30V Uncertain significance 0.134 benign 해석 →
L159F Uncertain significance 0.112 benign 해석 →
L159V Uncertain significance 0.086 benign 해석 →
L185F Uncertain significance 0.166 benign 해석 →
N389H Uncertain significance 0.087 benign 해석 →
N54S Uncertain significance 0.214 benign 해석 →
N81S Uncertain significance 0.095 benign 해석 →
P202S Uncertain significance 0.064 benign 해석 →
P224H Uncertain significance 0.127 benign 해석 →
P227L Likely benign 0.075 benign ✓ 해석 →
P267S Uncertain significance 0.093 benign 해석 →
P281L Uncertain significance 0.075 benign 해석 →
P289R Uncertain significance 0.080 benign 해석 →
P293L Uncertain significance 0.071 benign 해석 →
P323S Uncertain significance 0.070 benign 해석 →
P71T Uncertain significance 0.080 benign 해석 →
Q100L Uncertain significance 0.127 benign 해석 →
R116L Uncertain significance 0.153 benign 해석 →
R178S Uncertain significance 0.181 benign 해석 →
R198Q Likely benign 0.067 benign ✓ 해석 →
R198W Uncertain significance 0.069 benign 해석 →
R218Q Uncertain significance 0.091 benign 해석 →
R29Q Uncertain significance 0.088 benign 해석 →
R29W Uncertain significance 0.136 benign 해석 →
R314H Benign 0.071 benign ✓ 해석 →
R369Q Benign 0.070 benign ✓ 해석 →
R385C Uncertain significance 0.231 benign 해석 →
R57Q Uncertain significance 0.132 benign 해석 →
R57W Uncertain significance 0.236 benign 해석 →
R77C Benign 0.230 benign ✓ 해석 →
R98Q Uncertain significance 0.077 benign 해석 →
S307I Uncertain significance 0.131 benign 해석 →
S74G Uncertain significance 0.089 benign 해석 →
T340N Uncertain significance 0.158 benign 해석 →
V141M Uncertain significance 0.346 ambiguous 해석 →
V242M Uncertain significance 0.172 benign 해석 →
V255I Uncertain significance 0.091 benign 해석 →
V261D Uncertain significance 0.119 benign 해석 →
V276M Likely benign 0.069 benign ✓ 해석 →
V63G Uncertain significance 0.199 benign 해석 →
V75M Uncertain significance 0.148 benign 해석 →
W271R Conflicting classifications of pathogeni 0.968 pathogenic 해석 →
W51G Uncertain significance 0.920 pathogenic 해석 →
S391* - — 미적재 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.