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

DRD2: AM vs ClinVar 일치도

74 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
3
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
71
AM ↔ ClinVar 비교 가능 변이 3건 중 3건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A127V Uncertain significance 0.878 pathogenic 해석 →
A177T Uncertain significance 0.055 benign 해석 →
A276P Uncertain significance 0.073 benign 해석 →
A323T Uncertain significance 0.065 benign 해석 →
A376P Uncertain significance 0.991 pathogenic 해석 →
A38V Uncertain significance 0.704 pathogenic 해석 →
A410T Benign 0.110 benign ✓ 해석 →
A46T Uncertain significance 0.108 benign 해석 →
A64V Conflicting classifications of pathogeni 0.484 ambiguous 해석 →
C244S Uncertain significance 0.570 pathogenic 해석 →
D309N Uncertain significance 0.064 benign 해석 →
D30N Uncertain significance 0.070 benign 해석 →
D320N Uncertain significance 0.077 benign 해석 →
D400E Uncertain significance 0.107 benign 해석 →
E181D Uncertain significance 0.121 benign 해석 →
E99K Uncertain significance 0.141 benign 해석 →
G24R Conflicting classifications of pathogeni 0.096 benign 해석 →
G261R Uncertain significance 0.590 pathogenic 해석 →
G27R Uncertain significance 0.078 benign 해석 →
G51S Uncertain significance 0.983 pathogenic 해석 →
H316P Uncertain significance 0.057 benign 해석 →
I156V Uncertain significance 0.527 ambiguous 해석 →
I256V Uncertain significance 0.138 benign 해석 →
I431T Uncertain significance 0.119 benign 해석 →
K327E Benign/Likely benign 0.167 benign ✓ 해석 →
L123V Uncertain significance 0.915 pathogenic 해석 →
L315F Uncertain significance 0.064 benign 해석 →
M374R Uncertain significance 0.998 pathogenic 해석 →
N176D Uncertain significance 0.088 benign 해석 →
N348S Uncertain significance 0.075 benign 해석 →
N35H Uncertain significance 0.264 benign 해석 →
P264L Uncertain significance 0.147 benign 해석 →
P300H Uncertain significance 0.087 benign 해석 →
P310L Uncertain significance 0.075 benign 해석 →
P310S Conflicting classifications of pathogeni 0.065 benign 해석 →
P319A Uncertain significance 0.054 benign 해석 →
P347S Uncertain significance 0.177 benign 해석 →
P404L Uncertain significance 0.671 pathogenic 해석 →
Q179R Uncertain significance 0.066 benign 해석 →
Q366K Uncertain significance 0.265 benign 해석 →
R145H Uncertain significance 0.305 benign 해석 →
R150H Uncertain significance 0.259 benign 해석 →
R20W Uncertain significance 0.092 benign 해석 →
R217C Uncertain significance 0.362 ambiguous 해석 →
R219C Uncertain significance 0.948 pathogenic 해석 →
R220H Uncertain significance 0.304 benign 해석 →
R227C Uncertain significance 0.223 benign 해석 →
R227H Uncertain significance 0.126 benign 해석 →
R274Q Uncertain significance 0.072 benign 해석 →
R274W Uncertain significance 0.151 benign 해석 →
R294Q Uncertain significance 0.078 benign 해석 →
R294W Uncertain significance 0.167 benign 해석 →
R360C Uncertain significance 0.392 ambiguous 해석 →
R360H Conflicting classifications of pathogeni 0.211 benign 해석 →
R61C Uncertain significance 0.628 pathogenic 해석 →
R61H Uncertain significance 0.354 ambiguous 해석 →
S311C Benign 0.082 benign ✓ 해석 →
S321R Uncertain significance 0.343 ambiguous 해석 →
S359R Uncertain significance 0.756 pathogenic 해석 →
T144M Uncertain significance 0.666 pathogenic 해석 →
T293I Uncertain significance 0.126 benign 해석 →
T357I Uncertain significance 0.233 benign 해석 →
V154I Uncertain significance 0.072 benign 해석 →
V159I Uncertain significance 0.370 ambiguous 해석 →
V200M Uncertain significance 0.351 ambiguous 해석 →
V223I Uncertain significance 0.122 benign 해석 →
V421M Uncertain significance 0.396 ambiguous 해석 →
V53M Uncertain significance 0.301 benign 해석 →
V96A Uncertain significance 0.661 pathogenic 해석 →
V97I Uncertain significance 0.129 benign 해석 →
C126F - 0.970 pathogenic 해석 →
H313Q - 0.069 benign 해석 →
I130F - 0.774 pathogenic 해석 →
V91F - 0.524 ambiguous 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.