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

HNF1B: AM vs ClinVar 일치도

434 변이
✓ 둘 다 병원성
74
✓ 둘 다 양성
3
⚠ CV=병원성 / AM=양성
3
⚠ CV=양성 / AM=병원성
1
— AM 미적재
353
AM ↔ ClinVar 비교 가능 변이 81건 중 77건 일치 / 4건 불일치 — 일치도 95.1%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A122S Pathogenic 0.468 ambiguous 해석 →
A314T Likely pathogenic 0.825 pathogenic ✓ 해석 →
A317S Conflicting classifications of pathogeni 0.086 benign 해석 →
A502T Likely pathogenic 0.137 benign ⚠ 해석 →
A531P Uncertain significance 0.517 ambiguous 해석 →
C273S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C273Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
D117E Likely pathogenic 0.968 pathogenic ✓ 해석 →
D221V Conflicting classifications of pathogeni 0.165 benign 해석 →
D82N Conflicting classifications of pathogeni 0.694 pathogenic 해석 →
D85G Uncertain significance 0.755 pathogenic 해석 →
E101* Pathogenic — 미적재 해석 →
E78* Pathogenic — 미적재 해석 →
E78D Likely pathogenic 0.373 ambiguous 해석 →
E81* Pathogenic — 미적재 해석 →
E94* Pathogenic — 미적재 해석 →
G144S Uncertain significance 0.678 pathogenic 해석 →
G20R Likely risk allele 0.894 pathogenic 해석 →
G239E Pathogenic 1.000 pathogenic ✓ 해석 →
G239R Pathogenic 1.000 pathogenic ✓ 해석 →
G285D Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
G285S Likely pathogenic 0.910 pathogenic ✓ 해석 →
G287V Likely pathogenic 0.999 pathogenic ✓ 해석 →
G356* Pathogenic — 미적재 해석 →
G53W Uncertain significance 0.275 benign 해석 →
G68R Uncertain significance 0.863 pathogenic 해석 →
G83D Likely pathogenic 0.897 pathogenic ✓ 해석 →
H132L Likely pathogenic 0.991 pathogenic ✓ 해석 →
H132P Likely pathogenic 1.000 pathogenic ✓ 해석 →
H132R Likely pathogenic 0.988 pathogenic ✓ 해석 →
H153N Pathogenic 0.999 pathogenic ✓ 해석 →
H153R Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
H336R Likely pathogenic 0.193 benign ⚠ 해석 →
H336Y Conflicting classifications of pathogeni 0.121 benign 해석 →
I125T Pathogenic 0.997 pathogenic ✓ 해석 →
I403F Uncertain significance 0.220 benign 해석 →
K156* Pathogenic — 미적재 해석 →
K156E Pathogenic 1.000 pathogenic ✓ 해석 →
K161* Pathogenic — 미적재 해석 →
K164E Likely pathogenic 1.000 pathogenic ✓ 해석 →
K164Q Pathogenic 0.998 pathogenic ✓ 해석 →
K305E Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
L12F Conflicting classifications of pathogeni 0.779 pathogenic 해석 →
L145Q Likely pathogenic 1.000 pathogenic ✓ 해석 →
L154F Likely pathogenic 0.994 pathogenic ✓ 해석 →
L154R Likely pathogenic 1.000 pathogenic ✓ 해석 →
L246S Likely pathogenic 1.000 pathogenic ✓ 해석 →
L264S Likely pathogenic 1.000 pathogenic ✓ 해석 →
L286P Uncertain significance 1.000 pathogenic 해석 →
L286V Likely pathogenic 0.977 pathogenic ✓ 해석 →
L290* Pathogenic — 미적재 해석 →
L313P Likely pathogenic 0.999 pathogenic ✓ 해석 →
L74* Pathogenic/Likely pathogenic — 미적재 해석 →
L74W Pathogenic 0.384 ambiguous 해석 →
L92F Likely pathogenic 0.605 pathogenic ✓ 해석 →
M124I Likely pathogenic 0.671 pathogenic ✓ 해석 →
M160T Likely pathogenic 1.000 pathogenic ✓ 해석 →
M160V Pathogenic/Likely pathogenic 0.966 pathogenic ✓ 해석 →
M193T Conflicting classifications of pathogeni 0.107 benign 해석 →
M1I Pathogenic 0.827 pathogenic ✓ 해석 →
M1I Pathogenic 0.827 pathogenic ✓ 해석 →
M442T Likely pathogenic/Likely risk allele 0.899 pathogenic ✓ 해석 →
M495K Conflicting classifications of pathogeni 0.509 ambiguous 해석 →
M532V Conflicting classifications of pathogeni 0.232 benign 해석 →
N133S Pathogenic 0.495 ambiguous 해석 →
N146D Likely pathogenic 1.000 pathogenic ✓ 해석 →
N146T Likely pathogenic 0.996 pathogenic ✓ 해석 →
N289D Pathogenic/Likely pathogenic 0.988 pathogenic ✓ 해석 →
N289T Likely pathogenic 0.940 pathogenic ✓ 해석 →
N298D Uncertain significance 1.000 pathogenic 해석 →
N302D Likely pathogenic 1.000 pathogenic ✓ 해석 →
N302K Likely pathogenic 1.000 pathogenic ✓ 해석 →
N321S Conflicting classifications of pathogeni 0.049 benign 해석 →
N418I Likely pathogenic 0.956 pathogenic ✓ 해석 →
N418T Conflicting classifications of pathogeni 0.428 ambiguous 해석 →
P159L Likely pathogenic 0.969 pathogenic ✓ 해석 →
P256S Likely pathogenic 1.000 pathogenic ✓ 해석 →
P437L Conflicting classifications of pathogeni 0.946 pathogenic 해석 →
P90T Conflicting classifications of pathogeni 0.144 benign 해석 →
Q131* Pathogenic — 미적재 해석 →
Q136* Pathogenic — 미적재 해석 →
Q136E Pathogenic 0.984 pathogenic ✓ 해석 →
Q147* Pathogenic — 미적재 해석 →
Q147H Pathogenic 1.000 pathogenic ✓ 해석 →
Q152* Likely pathogenic — 미적재 해석 →
Q176* Pathogenic/Likely pathogenic — 미적재 해석 →
Q182* Pathogenic — 미적재 해석 →
Q212* Pathogenic/Likely pathogenic — 미적재 해석 →
Q243P Likely pathogenic 0.998 pathogenic ✓ 해석 →
Q244* Pathogenic — 미적재 해석 →
Q248* Pathogenic — 미적재 해석 →
Q253P Likely pathogenic 0.997 pathogenic ✓ 해석 →
Q275* Pathogenic — 미적재 해석 →
Q311* Pathogenic — 미적재 해석 →
Q322* Pathogenic — 미적재 해석 →
Q355* Pathogenic — 미적재 해석 →
Q382* Pathogenic — 미적재 해석 →
Q383* Likely pathogenic — 미적재 해석 →
Q428* Pathogenic/Likely pathogenic — 미적재 해석 →
Q429* Pathogenic — 미적재 해석 →
Q446E Conflicting classifications of pathogeni 0.116 benign 해석 →
Q452* Likely pathogenic — 미적재 해석 →
Q454* Pathogenic — 미적재 해석 →
Q470* Pathogenic — 미적재 해석 →
Q477* Pathogenic — 미적재 해석 →
Q484* Likely pathogenic — 미적재 해석 →
Q521* Pathogenic/Likely pathogenic — 미적재 해석 →
Q9* Pathogenic — 미적재 해석 →
R112P Pathogenic 0.989 pathogenic ✓ 해석 →
R165C Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
R165G Pathogenic 0.998 pathogenic ✓ 해석 →
R165H Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
R165P Likely pathogenic 1.000 pathogenic ✓ 해석 →
R165S Likely pathogenic 1.000 pathogenic ✓ 해석 →
R177* Pathogenic — 미적재 해석 →
R181* Pathogenic — 미적재 해석 →
R181Q Conflicting classifications of pathogeni 0.083 benign 해석 →
R233H Likely pathogenic 0.992 pathogenic ✓ 해석 →
R235Q Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
R235W Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
R252P Likely pathogenic 0.998 pathogenic ✓ 해석 →
R252Q Conflicting classifications of pathogeni 0.201 benign 해석 →
R261G Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
R276* Pathogenic — 미적재 해석 →
R276G Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
R276Q Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
R295C Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
R295H Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
R295P Likely pathogenic 0.999 pathogenic ✓ 해석 →
R303H Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
R304G Likely pathogenic/Likely risk allele 1.000 pathogenic ✓ 해석 →
R304T Likely pathogenic 1.000 pathogenic ✓ 해석 →
R310W Uncertain significance 0.984 pathogenic 해석 →
S115N Conflicting classifications of pathogeni 0.133 benign 해석 →
S148* Pathogenic/Likely pathogenic — 미적재 해석 →
S148L Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
S148W Pathogenic 0.999 pathogenic ✓ 해석 →
S151C Likely pathogenic 0.999 pathogenic ✓ 해석 →
S151F Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
S151P Likely pathogenic 1.000 pathogenic ✓ 해석 →
S342P Conflicting classifications of pathogeni 0.131 benign 해석 →
S353T Uncertain significance 0.082 benign 해석 →
S362F Uncertain significance 0.467 ambiguous 해석 →
S379* Pathogenic — 미적재 해석 →
S451T Likely pathogenic 0.088 benign ⚠ 해석 →
S465R Conflicting classifications of pathogeni 0.981 pathogenic 해석 →
S547F Likely pathogenic 0.584 pathogenic ✓ 해석 →
T415S Conflicting classifications of pathogeni 0.850 pathogenic 해석 →
V110G Likely pathogenic 0.942 pathogenic ✓ 해석 →
V173I Conflicting classifications of pathogeni 0.121 benign 해석 →
V173L Likely pathogenic 0.678 pathogenic ✓ 해석 →
V296F Likely pathogenic 0.999 pathogenic ✓ 해석 →
W119* Pathogenic — 미적재 해석 →
W171* Pathogenic — 미적재 해석 →
W171C Likely pathogenic 0.999 pathogenic ✓ 해석 →
W171C Likely pathogenic 0.999 pathogenic ✓ 해석 →
W171R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
W238R Likely pathogenic 1.000 pathogenic ✓ 해석 →
W299* Pathogenic/Likely pathogenic — 미적재 해석 →
W299G Likely pathogenic 0.999 pathogenic ✓ 해석 →
W299R Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y169H Pathogenic 0.998 pathogenic ✓ 해석 →
Y172* Pathogenic — 미적재 해석 →
Y247* Likely pathogenic — 미적재 해석 →
Y297* Likely pathogenic — 미적재 해석 →
Y297* Likely pathogenic — 미적재 해석 →
Y318* Pathogenic — 미적재 해석 →
Y352* Pathogenic — 미적재 해석 →
Y352C Likely pathogenic 0.378 ambiguous 해석 →
Y513C Likely pathogenic 0.690 pathogenic ✓ 해석 →
A104V Uncertain significance 0.078 benign 해석 →
A122T Uncertain significance/Uncertain risk al 0.983 pathogenic 해석 →
A15V Uncertain significance 0.605 pathogenic 해석 →
A167P Uncertain significance 0.999 pathogenic 해석 →
A167T Uncertain significance 0.863 pathogenic 해석 →
A241T Uncertain significance 0.932 pathogenic 해석 →
A241V Uncertain significance 0.925 pathogenic 해석 →
A317T Uncertain significance 0.088 benign 해석 →
A373T Uncertain significance/Uncertain risk al 0.071 benign 해석 →
A467T Uncertain significance 0.119 benign 해석 →
A496V Uncertain significance 0.119 benign 해석 →
A502E Likely benign 0.848 pathogenic ⚠ 해석 →
A502V Uncertain significance 0.374 ambiguous 해석 →
A503P Uncertain significance 0.278 benign 해석 →
A503T Uncertain significance 0.060 benign 해석 →
A503V Uncertain significance 0.243 benign 해석 →
A514T Uncertain significance 0.064 benign 해석 →
C223F Uncertain significance 0.080 benign 해석 →
C552Y Uncertain significance 0.929 pathogenic 해석 →
D111G Uncertain significance 0.368 ambiguous 해석 →
D141N Uncertain significance 0.919 pathogenic 해석 →
D195G Uncertain significance 0.103 benign 해석 →
D200E Uncertain significance 0.225 benign 해석 →
D220E Uncertain significance 0.077 benign 해석 →
D220H Uncertain significance 0.210 benign 해석 →
D220N Uncertain significance 0.090 benign 해석 →
D251N Uncertain significance 0.257 benign 해석 →
D390G Uncertain significance 0.403 ambiguous 해석 →
D399G Uncertain significance 0.248 benign 해석 →
D57E Uncertain significance 0.096 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.