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

CYP2C19: AM vs ClinVar 일치도

72 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
3
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
69
AM ↔ ClinVar 비교 가능 변이 3건 중 3건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*491C drug response — 미적재 해석 →
C13S Uncertain significance 0.139 benign 해석 →
C164F Uncertain significance 0.109 benign 해석 →
D188N drug response 0.129 benign 해석 →
D243V Uncertain significance 0.109 benign 해석 →
D256N drug response 0.137 benign 해석 →
D408N Uncertain significance 0.138 benign 해석 →
D414H Uncertain significance 0.437 ambiguous 해석 →
D46G Uncertain significance 0.171 benign 해석 →
D49V Uncertain significance 0.214 benign 해석 →
E199K Uncertain significance 0.092 benign 해석 →
E328A Uncertain significance 0.134 benign 해석 →
F448L drug response 0.798 pathogenic 해석 →
G135V Uncertain significance 0.878 pathogenic 해석 →
G416D Uncertain significance 0.073 benign 해석 →
G91R drug response 0.626 pathogenic 해석 →
H396Q Uncertain significance 0.241 benign 해석 →
H78Y drug response 0.140 benign 해석 →
H99R drug response 0.068 benign 해석 →
I112T Uncertain significance 0.624 pathogenic 해석 →
I19L drug response 0.058 benign 해석 →
I205S Uncertain significance 0.352 ambiguous 해석 →
I215T Uncertain significance 0.519 ambiguous 해석 →
I222V Uncertain significance 0.080 benign 해석 →
I331V Benign 0.063 benign ✓ 해석 →
I362T Uncertain significance 0.571 pathogenic 해석 →
I462M Uncertain significance 0.075 benign 해석 →
K28I drug response 0.169 benign 해석 →
K465E Uncertain significance 0.081 benign 해석 →
L131P Uncertain significance 0.920 pathogenic 해석 →
L17P drug response 0.234 benign 해석 →
L361R Uncertain significance 0.807 pathogenic 해석 →
L57P Uncertain significance 0.877 pathogenic 해석 →
L87Q Uncertain significance 0.711 pathogenic 해석 →
M1V drug response 0.094 benign 해석 →
N133K Uncertain significance 0.588 pathogenic 해석 →
N418D Uncertain significance 0.147 benign 해석 →
P227L drug response 0.292 benign 해석 →
P427S Uncertain significance 0.604 pathogenic 해석 →
Q146E Uncertain significance 0.131 benign 해석 →
Q146H Uncertain significance 0.509 ambiguous 해석 →
Q356P Uncertain significance 0.866 pathogenic 해석 →
R132Q drug response 0.402 ambiguous 해석 →
R144H drug response 0.174 benign 해석 →
R144S Uncertain significance 0.557 ambiguous 해석 →
R150H drug response 0.085 benign 해석 →
R186P drug response 0.800 pathogenic 해석 →
R329H drug response 0.078 benign 해석 →
R410C drug response 0.082 benign 해석 →
R433W drug response 0.610 pathogenic 해석 →
R442C drug response 0.397 ambiguous 해석 →
R73C drug response 0.218 benign 해석 →
S23R Likely benign 0.154 benign ✓ 해석 →
S365T Uncertain significance 0.204 benign 해석 →
S390F Uncertain significance 0.551 ambiguous 해석 →
S51G drug response 0.072 benign 해석 →
T290S Uncertain significance 0.196 benign 해석 →
T304P Uncertain significance 0.653 pathogenic 해석 →
T320I Uncertain significance 0.189 benign 해석 →
T469K Uncertain significance 0.193 benign 해석 →
T470I Uncertain significance 0.132 benign 해석 →
V319I Uncertain significance 0.098 benign 해석 →
V50I Likely benign 0.072 benign ✓ 해석 →
V82M Uncertain significance 0.273 benign 해석 →
W120R drug response 0.963 pathogenic 해석 →
W212* drug response — 미적재 해석 →
Y61C Uncertain significance 0.230 benign 해석 →
A161P - 0.294 benign 해석 →
F4L no classification for the single variant 0.231 benign 해석 →
P3S no classification for the single variant 0.081 benign 해석 →
R335Q no classification for the single variant 0.130 benign 해석 →
V374I no classification for the single variant 0.084 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.