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

CYP19A1: AM vs ClinVar 일치도

121 변이
✓ 둘 다 병원성
6
✓ 둘 다 양성
8
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
106
AM ↔ ClinVar 비교 가능 변이 15건 중 14건 일치 / 1건 불일치 — 일치도 93.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C437Y Likely pathogenic 0.964 pathogenic ✓ 해석 →
E129* Pathogenic — 미적재 해석 →
E210K Pathogenic 0.284 benign ⚠ 해석 →
E342* Pathogenic/Likely pathogenic — 미적재 해석 →
E93* Pathogenic — 미적재 해석 →
H128R Conflicting classifications of pathogeni 0.161 benign 해석 →
K242* Likely pathogenic — 미적재 해석 →
K376* Pathogenic — 미적재 해석 →
K389* Pathogenic — 미적재 해석 →
L353* Pathogenic — 미적재 해석 →
M127T Likely pathogenic 0.947 pathogenic ✓ 해석 →
M85R Conflicting classifications of pathogeni 0.514 ambiguous 해석 →
N411S Conflicting classifications of pathogeni 0.070 benign 해석 →
Q123* Pathogenic/Likely pathogenic — 미적재 해석 →
Q337* Pathogenic — 미적재 해석 →
Q351* Pathogenic — 미적재 해석 →
Q428* Pathogenic — 미적재 해석 →
R115* Pathogenic — 미적재 해석 →
R115Q Likely pathogenic 0.803 pathogenic ✓ 해석 →
R145* Pathogenic — 미적재 해석 →
R192C Likely pathogenic 0.545 ambiguous 해석 →
R192H Likely pathogenic 0.410 ambiguous 해석 →
R365Q Likely pathogenic 0.858 pathogenic ✓ 해석 →
R365W Conflicting classifications of pathogeni 0.884 pathogenic 해석 →
R375C Likely pathogenic 0.763 pathogenic ✓ 해석 →
R375H Likely pathogenic 0.561 ambiguous 해석 →
R435C Pathogenic 0.810 pathogenic ✓ 해석 →
R435H Likely pathogenic 0.515 ambiguous 해석 →
R457* Likely pathogenic — 미적재 해석 →
R86* Pathogenic/Likely pathogenic — 미적재 해석 →
W224* Pathogenic/Likely pathogenic — 미적재 해석 →
W224* Likely pathogenic — 미적재 해석 →
W239* Pathogenic — 미적재 해석 →
W39* Likely pathogenic — 미적재 해석 →
W67* Pathogenic/Likely pathogenic — 미적재 해석 →
Y184* Pathogenic — 미적재 해석 →
Y426* Likely pathogenic — 미적재 해석 →
Y81C Conflicting classifications of pathogeni 0.233 benign 해석 →
A165T Uncertain significance 0.063 benign 해석 →
A306T Uncertain significance 0.694 pathogenic 해석 →
A443T Uncertain significance 0.594 pathogenic 해석 →
C275R Likely benign 0.096 benign ✓ 해석 →
C500Y Uncertain significance 0.063 benign 해석 →
D173Y Uncertain significance 0.126 benign 해석 →
D209G Uncertain significance 0.221 benign 해석 →
D209N Uncertain significance 0.098 benign 해석 →
D348G Uncertain significance 0.082 benign 해석 →
D381V Uncertain significance 0.678 pathogenic 해석 →
D498N Uncertain significance 0.072 benign 해석 →
E177K Uncertain significance 0.102 benign 해석 →
E270D Uncertain significance 0.079 benign 해석 →
E273K Uncertain significance 0.130 benign 해석 →
E274K Uncertain significance 0.102 benign 해석 →
E357G Uncertain significance 0.454 ambiguous 해석 →
E357K Uncertain significance 0.692 pathogenic 해석 →
F316L Uncertain significance 0.716 pathogenic 해석 →
F430S Uncertain significance 0.974 pathogenic 해석 →
G126S Uncertain significance 0.267 benign 해석 →
G156D Uncertain significance 0.328 benign 해석 →
G156S Uncertain significance 0.089 benign 해석 →
G385D Uncertain significance 0.290 benign 해석 →
G63S Uncertain significance 0.106 benign 해석 →
H171Q Uncertain significance 0.308 benign 해석 →
I132V Uncertain significance 0.082 benign 해석 →
I213V Uncertain significance 0.068 benign 해석 →
I237M Uncertain significance 0.117 benign 해석 →
I300L Uncertain significance 0.128 benign 해석 →
I300V Uncertain significance 0.074 benign 해석 →
I442F Uncertain significance 0.313 benign 해석 →
I474K Uncertain significance 0.056 benign 해석 →
I47T Uncertain significance 0.474 ambiguous 해석 →
I47V Uncertain significance 0.084 benign 해석 →
I96N Uncertain significance 0.925 pathogenic 해석 →
K119N Uncertain significance 0.272 benign 해석 →
K150E Uncertain significance 0.442 ambiguous 해석 →
L304R Uncertain significance 0.829 pathogenic 해석 →
L378S Uncertain significance 0.191 benign 해석 →
M276T Uncertain significance 0.069 benign 해석 →
M303V Uncertain significance 0.289 benign 해석 →
M311T Uncertain significance 0.321 benign 해석 →
M318K Uncertain significance 0.886 pathogenic 해석 →
M318T Uncertain significance 0.309 benign 해석 →
M85L Uncertain significance 0.223 benign 해석 →
M85V Uncertain significance 0.062 benign 해석 →
N137H Uncertain significance 0.108 benign 해석 →
N180D Uncertain significance 0.069 benign 해석 →
N411H Uncertain significance 0.082 benign 해석 →
N75S Uncertain significance 0.116 benign 해석 →
N78S Uncertain significance 0.141 benign 해석 →
P18R Uncertain significance 0.105 benign 해석 →
P326S Likely benign 0.160 benign ✓ 해석 →
P387L Uncertain significance 0.077 benign 해석 →
Q351R Uncertain significance 0.112 benign 해석 →
R159C Benign 0.144 benign ✓ 해석 →
R192P Uncertain significance 0.980 pathogenic 해석 →
R264C Benign 0.082 benign ✓ 해석 →
R264H Uncertain significance 0.065 benign 해석 →
R375L Uncertain significance 0.954 pathogenic 해석 →
R457Q Likely benign 0.088 benign ✓ 해석 →
R499S Uncertain significance 0.110 benign 해석 →
S470R Uncertain significance 0.122 benign 해석 →
S478F Uncertain significance 0.772 pathogenic 해석 →
T14I Uncertain significance 0.210 benign 해석 →
T201M Benign 0.070 benign ✓ 해석 →
T25A Uncertain significance 0.058 benign 해석 →
T310S Uncertain significance 0.557 ambiguous 해석 →
T414I Uncertain significance 0.297 benign 해석 →
V161A Uncertain significance 0.192 benign 해석 →
V17M Conflicting classifications of pathogeni 0.096 benign 해석 →
V194I Uncertain significance 0.072 benign 해석 →
V214M Uncertain significance 0.241 benign 해석 →
V28L Uncertain significance 0.057 benign 해석 →
V460M Uncertain significance 0.237 benign 해석 →
V80L Uncertain significance 0.080 benign 해석 →
W39R Likely benign 0.270 benign ✓ 해석 →
W39R Benign/Likely benign 0.270 benign ✓ 해석 →
Y241N Conflicting classifications of pathogeni 0.161 benign 해석 →
Y76C Uncertain significance 0.270 benign 해석 →
Y77C Uncertain significance 0.452 ambiguous 해석 →
Y77H Uncertain significance 0.753 pathogenic 해석 →
D186E - 0.317 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.