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

CITED2: AM vs ClinVar 일치도

65 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
3
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
61
AM ↔ ClinVar 비교 가능 변이 4건 중 4건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
E234A Likely pathogenic 0.999 pathogenic ✓ 해석 →
A141T Uncertain significance 0.073 benign 해석 →
A203V Uncertain significance 0.125 benign 해석 →
A206V Uncertain significance 0.230 benign 해석 →
A211T Uncertain significance 0.253 benign 해석 →
A25P Uncertain significance 0.536 ambiguous 해석 →
A25V Uncertain significance 0.488 ambiguous 해석 →
A65S Uncertain significance 0.063 benign 해석 →
A7P Uncertain significance 0.856 pathogenic 해석 →
A7V Uncertain significance 0.862 pathogenic 해석 →
A91G Uncertain significance 0.176 benign 해석 →
A91S Uncertain significance 0.082 benign 해석 →
C156G Uncertain significance 0.555 ambiguous 해석 →
D221E Uncertain significance 0.970 pathogenic 해석 →
D224G Uncertain significance 0.999 pathogenic 해석 →
E252* Uncertain significance — 미적재 해석 →
F153L Uncertain significance 0.990 pathogenic 해석 →
F153L Uncertain significance 0.990 pathogenic 해석 →
F93L Uncertain significance 0.976 pathogenic 해석 →
F98L Uncertain significance 0.987 pathogenic 해석 →
G108V Uncertain significance 0.340 ambiguous 해석 →
G178V Uncertain significance 0.127 benign 해석 →
G188S Uncertain significance 0.073 benign 해석 →
G194D Uncertain significance 0.324 benign 해석 →
G197R Uncertain significance 0.387 ambiguous 해석 →
G53D Uncertain significance 0.860 pathogenic 해석 →
H10Y Uncertain significance 0.848 pathogenic 해석 →
H139P Uncertain significance 0.261 benign 해석 →
H160L Benign/Likely benign 0.331 benign ✓ 해석 →
H21Q Uncertain significance 0.410 ambiguous 해석 →
H26D Uncertain significance 0.952 pathogenic 해석 →
H37R Uncertain significance 0.538 ambiguous 해석 →
I233V Uncertain significance 0.331 benign 해석 →
I56V Uncertain significance 0.184 benign 해석 →
M135I Uncertain significance 0.537 ambiguous 해석 →
M146K Uncertain significance 0.809 pathogenic 해석 →
M201L Uncertain significance 0.102 benign 해석 →
M229T Uncertain significance 0.952 pathogenic 해석 →
M5T Uncertain significance 0.964 pathogenic 해석 →
M5V Uncertain significance 0.471 ambiguous 해석 →
M99L Uncertain significance 0.080 benign 해석 →
M99T Uncertain significance 0.440 ambiguous 해석 →
N147T Uncertain significance 0.302 benign 해석 →
P128L Uncertain significance 0.764 pathogenic 해석 →
P128S Uncertain significance 0.391 ambiguous 해석 →
P130A Uncertain significance 0.250 benign 해석 →
P130R Uncertain significance 0.844 pathogenic 해석 →
P130S Uncertain significance 0.243 benign 해석 →
P136Q Uncertain significance 0.598 pathogenic 해석 →
P136R Uncertain significance 0.885 pathogenic 해석 →
P140R Uncertain significance 0.766 pathogenic 해석 →
P24S Uncertain significance 0.370 ambiguous 해석 →
P83S Uncertain significance 0.115 benign 해석 →
P84S Uncertain significance 0.042 benign 해석 →
P89A Uncertain significance 0.239 benign 해석 →
R27L Uncertain significance 0.972 pathogenic 해석 →
R27P Uncertain significance 0.975 pathogenic 해석 →
S165R Uncertain significance 0.828 pathogenic 해석 →
S181T Likely benign 0.081 benign ✓ 해석 →
S192G Benign/Likely benign 0.055 benign ✓ 해석 →
S266N Uncertain significance 0.688 pathogenic 해석 →
S35T Uncertain significance 0.077 benign 해석 →
T149I Uncertain significance 0.636 pathogenic 해석 →
T175I Uncertain significance 0.172 benign 해석 →
V232M Uncertain significance 0.998 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.