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

ALAD: AM vs ClinVar 일치도

68 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
3
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
64
AM ↔ ClinVar 비교 가능 변이 4건 중 4건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A274T Pathogenic 0.394 ambiguous 해석 →
F12L Conflicting classifications of pathogeni 0.892 pathogenic 해석 →
G133R Likely pathogenic 0.903 pathogenic ✓ 해석 →
K59N Benign/Likely benign 0.099 benign ✓ 해석 →
R240W Uncertain significance 0.660 pathogenic 해석 →
V275M Uncertain significance 0.552 ambiguous 해석 →
A160T Uncertain significance 0.256 benign 해석 →
A93T Uncertain significance 0.119 benign 해석 →
C162S Uncertain significance 0.662 pathogenic 해석 →
D239N Uncertain significance 0.117 benign 해석 →
D266G Uncertain significance 0.120 benign 해석 →
D42E Uncertain significance 0.172 benign 해석 →
E180G Uncertain significance 0.078 benign 해석 →
E330K Uncertain significance 0.109 benign 해석 →
E97K Uncertain significance 0.075 benign 해석 →
G10A Uncertain significance 0.217 benign 해석 →
G10S Uncertain significance 0.144 benign 해석 →
G139R Uncertain significance 0.301 benign 해석 →
G292R Uncertain significance 0.313 benign 해석 →
H106R Likely benign 0.047 benign ✓ 해석 →
I314V Uncertain significance 0.095 benign 해석 →
K110N Uncertain significance 0.204 benign 해석 →
K159R Uncertain significance 0.073 benign 해석 →
L15V Uncertain significance 0.066 benign 해석 →
L31F Uncertain significance 0.168 benign 해석 →
M1V Uncertain significance 0.081 benign 해석 →
M304T Uncertain significance 0.262 benign 해석 →
M304V Uncertain significance 0.110 benign 해석 →
N27S Uncertain significance 0.061 benign 해석 →
P216L Uncertain significance 0.641 pathogenic 해석 →
P321S Uncertain significance 0.399 ambiguous 해석 →
P67R Uncertain significance 0.385 ambiguous 해석 →
Q45H Uncertain significance 0.338 benign 해석 →
R142Q Conflicting classifications of pathogeni 0.080 benign 해석 →
R147C Uncertain significance 0.109 benign 해석 →
R149Q Uncertain significance 0.505 ambiguous 해석 →
R149W Uncertain significance 0.557 ambiguous 해석 →
R174C Uncertain significance 0.577 pathogenic 해석 →
R174G Uncertain significance 0.921 pathogenic 해석 →
R174H Uncertain significance 0.592 pathogenic 해석 →
R17Q Uncertain significance 0.515 ambiguous 해석 →
R17W Uncertain significance 0.763 pathogenic 해석 →
R221C Uncertain significance 0.888 pathogenic 해석 →
R221S Uncertain significance 0.982 pathogenic 해석 →
R222C Uncertain significance 0.171 benign 해석 →
R231Q Likely benign 0.172 benign ✓ 해석 →
R240P Uncertain significance 0.992 pathogenic 해석 →
R240Q Uncertain significance 0.495 ambiguous 해석 →
R262W Uncertain significance 0.386 ambiguous 해석 →
R60Q Uncertain significance 0.101 benign 해석 →
R60W Uncertain significance 0.271 benign 해석 →
R74H Uncertain significance 0.091 benign 해석 →
R84K Uncertain significance 0.106 benign 해석 →
R90Q Uncertain significance 0.090 benign 해석 →
S136N Uncertain significance 0.133 benign 해석 →
S168L Uncertain significance 0.957 pathogenic 해석 →
S197R Uncertain significance 0.996 pathogenic 해석 →
S215N Uncertain significance 0.262 benign 해석 →
S96F Uncertain significance 0.264 benign 해석 →
T38K Uncertain significance 0.640 pathogenic 해석 →
V191A Uncertain significance 0.606 pathogenic 해석 →
V191I Uncertain significance 0.175 benign 해석 →
V242I Uncertain significance 0.106 benign 해석 →
V6I Conflicting classifications of pathogeni 0.076 benign 해석 →
V81I Uncertain significance 0.134 benign 해석 →
Y257C Uncertain significance 0.304 benign 해석 →
R55M - 0.924 pathogenic 해석 →
Y56* - — 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.