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

TREM2: AM vs ClinVar 일치도

83 변이
✓ 둘 다 병원성
3
✓ 둘 다 양성
8
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
72
AM ↔ ClinVar 비교 가능 변이 11건 중 11건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
D134G Conflicting classifications of pathogeni 0.088 benign 해석 →
D39E Uncertain significance 0.332 benign 해석 →
D86V Likely pathogenic 0.912 pathogenic ✓ 해석 →
E14* Pathogenic — 미적재 해석 →
K186N Uncertain significance 0.836 pathogenic 해석 →
L164* Pathogenic — 미적재 해석 →
Q33* Pathogenic — 미적재 해석 →
R62C Conflicting classifications of pathogeni 0.399 ambiguous 해석 →
T66M Pathogenic/Likely pathogenic 0.361 ambiguous 해석 →
V126G Pathogenic/Likely pathogenic 0.683 pathogenic ✓ 해석 →
W198* Pathogenic — 미적재 해석 →
W44* Likely pathogenic — 미적재 해석 →
W78* Likely pathogenic — 미적재 해석 →
Y38* Likely pathogenic — 미적재 해석 →
Y38C Pathogenic 0.900 pathogenic ✓ 해석 →
A105V Uncertain significance 0.260 benign 해석 →
A118D Uncertain significance 0.262 benign 해석 →
A180P Uncertain significance 0.251 benign 해석 →
A192T Uncertain significance 0.081 benign 해석 →
A28V Conflicting classifications of pathogeni 0.108 benign 해석 →
A49S Uncertain significance 0.142 benign 해석 →
C51Y Uncertain significance 0.935 pathogenic 해석 →
D212G Uncertain significance 0.076 benign 해석 →
D216Y Uncertain significance 0.093 benign 해석 →
D39H Uncertain significance 0.260 benign 해석 →
D39N Uncertain significance 0.090 benign 해석 →
D87N Conflicting classifications of pathogeni 0.129 benign 해석 →
D87V Uncertain significance 0.691 pathogenic 해석 →
E151K Uncertain significance 0.075 benign 해석 →
F170L Uncertain significance 0.496 ambiguous 해석 →
G145A Uncertain significance 0.081 benign 해석 →
G145R Uncertain significance 0.075 benign 해석 →
G145W Uncertain significance 0.140 benign 해석 →
G17R Likely benign 0.073 benign ✓ 해석 →
G204E Uncertain significance 0.070 benign 해석 →
G45E Uncertain significance 0.364 ambiguous 해석 →
G58D Uncertain significance 0.155 benign 해석 →
G58S Uncertain significance 0.154 benign 해석 →
G90D Uncertain significance 0.227 benign 해석 →
H157Y Benign/Likely benign 0.105 benign ✓ 해석 →
H19N Uncertain significance 0.092 benign 해석 →
H215Q Uncertain significance 0.086 benign 해석 →
H67R Uncertain significance 0.188 benign 해석 →
I8F Uncertain significance 0.086 benign 해석 →
L193P Uncertain significance 0.404 ambiguous 해석 →
L211P Benign/Likely benign 0.045 benign ✓ 해석 →
L7F Uncertain significance 0.078 benign 해석 →
L97P Uncertain significance 0.950 pathogenic 해석 →
N68I Uncertain significance 0.264 benign 해석 →
N68K Uncertain significance 0.158 benign 해석 →
N99D Uncertain significance 0.108 benign 해석 →
P102T Uncertain significance 0.080 benign 해석 →
P144R Uncertain significance 0.097 benign 해석 →
P169T Uncertain significance 0.069 benign 해석 →
P172S Conflicting classifications of pathogeni 0.091 benign 해석 →
P208A Uncertain significance 0.052 benign 해석 →
P225L Uncertain significance 0.087 benign 해석 →
P59A Uncertain significance 0.082 benign 해석 →
P59Q Uncertain significance 0.109 benign 해석 →
R122K Uncertain significance 0.116 benign 해석 →
R136Q Conflicting classifications of pathogeni 0.055 benign 해석 →
R136W Uncertain significance 0.085 benign 해석 →
R47H Likely benign 0.187 benign ✓ 해석 →
R47L Uncertain significance 0.333 benign 해석 →
R52C Uncertain significance 0.573 pathogenic 해석 →
R52H Uncertain significance 0.167 benign 해석 →
R5Q Uncertain significance 0.083 benign 해석 →
R62H Benign/Likely benign 0.112 benign ✓ 해석 →
R98W Uncertain significance 0.150 benign 해석 →
S116C Uncertain significance 0.317 benign 해석 →
S162R Uncertain significance 0.169 benign 해석 →
T223I Benign/Likely benign 0.110 benign ✓ 해석 →
T230M Uncertain significance 0.123 benign 해석 →
T85I Uncertain significance 0.157 benign 해석 →
T96K Benign/Likely benign 0.338 benign ✓ 해석 →
T96M Uncertain significance 0.159 benign 해석 →
V155M Uncertain significance 0.119 benign 해석 →
V27M Likely benign 0.082 benign ✓ 해석 →
V34M Uncertain significance 0.535 ambiguous 해석 →
W142R Uncertain significance 0.299 benign 해석 →
W70R Uncertain significance 0.828 pathogenic 해석 →
Y108C Uncertain significance 0.988 pathogenic 해석 →
L72V - 0.169 benign 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.