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

TBX18: AM vs ClinVar 일치도

162 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
10
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
151
AM ↔ ClinVar 비교 가능 변이 11건 중 11건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
G552* Likely pathogenic — 미적재 해석 →
H524Y Uncertain significance 0.386 ambiguous 해석 →
K163E Pathogenic 1.000 pathogenic ✓ 해석 →
Q601R Likely pathogenic 0.450 ambiguous 해석 →
R349* Pathogenic — 미적재 해석 →
R429* Conflicting classifications of pathogeni — 미적재 해석 →
A123E Uncertain significance 0.093 benign 해석 →
A211T Uncertain significance 0.996 pathogenic 해석 →
A214G Uncertain significance 0.935 pathogenic 해석 →
A340V Uncertain significance 0.680 pathogenic 해석 →
A384S Conflicting classifications of pathogeni 0.070 benign 해석 →
A413D Uncertain significance 0.253 benign 해석 →
A415T Uncertain significance 0.068 benign 해석 →
A421S Uncertain significance 0.064 benign 해석 →
A421V Uncertain significance 0.100 benign 해석 →
A43V Conflicting classifications of pathogeni 0.076 benign 해석 →
A445T Likely benign 0.052 benign ✓ 해석 →
A450V Uncertain significance 0.081 benign 해석 →
A509T Uncertain significance 0.065 benign 해석 →
A509V Uncertain significance 0.101 benign 해석 →
A542T Uncertain significance 0.085 benign 해석 →
A542V Uncertain significance 0.140 benign 해석 →
A61T Uncertain significance 0.070 benign 해석 →
A73P Conflicting classifications of pathogeni 0.078 benign 해석 →
A73T Likely benign 0.073 benign ✓ 해석 →
A74P Uncertain significance 0.074 benign 해석 →
A81V Uncertain significance 0.077 benign 해석 →
A86G Uncertain significance 0.059 benign 해석 →
A86S Uncertain significance 0.068 benign 해석 →
A86T Uncertain significance 0.076 benign 해석 →
A90V Uncertain significance 0.081 benign 해석 →
C395Y Uncertain significance 0.763 pathogenic 해석 →
C480R Uncertain significance 0.575 pathogenic 해석 →
D195G Uncertain significance 0.996 pathogenic 해석 →
D243N Uncertain significance 0.995 pathogenic 해석 →
D279G Uncertain significance 0.208 benign 해석 →
D280N Likely benign 0.178 benign ✓ 해석 →
D91A Likely benign 0.065 benign ✓ 해석 →
E93D Uncertain significance 0.077 benign 해석 →
F104L Uncertain significance 0.524 ambiguous 해석 →
F242L Uncertain significance 1.000 pathogenic 해석 →
F357S Uncertain significance 0.981 pathogenic 해석 →
F449V Uncertain significance 0.231 benign 해석 →
F554S Uncertain significance 0.682 pathogenic 해석 →
G103C Uncertain significance 0.098 benign 해석 →
G156D Uncertain significance 1.000 pathogenic 해석 →
G156V Uncertain significance 1.000 pathogenic 해석 →
G178E Uncertain significance 0.901 pathogenic 해석 →
G27R Uncertain significance 0.952 pathogenic 해석 →
G290R Benign 0.494 ambiguous 해석 →
G332R Uncertain significance 0.998 pathogenic 해석 →
G403A Uncertain significance 0.075 benign 해석 →
G42A Uncertain significance 0.063 benign 해석 →
G48R Benign 0.128 benign ✓ 해석 →
G491R Uncertain significance 0.690 pathogenic 해석 →
G516S Uncertain significance 0.058 benign 해석 →
G581W Uncertain significance 0.496 ambiguous 해석 →
G60S Likely benign 0.079 benign ✓ 해석 →
G69A Uncertain significance 0.068 benign 해석 →
G69R Uncertain significance 0.105 benign 해석 →
H257R Uncertain significance 0.997 pathogenic 해석 →
H261L Uncertain significance 0.977 pathogenic 해석 →
H401R Uncertain significance 0.306 benign 해석 →
H605Y Uncertain significance 0.616 pathogenic 해석 →
I155M Uncertain significance 0.856 pathogenic 해석 →
I155T Uncertain significance 0.970 pathogenic 해석 →
I191V Uncertain significance 0.161 benign 해석 →
I240T Uncertain significance 0.988 pathogenic 해석 →
K275R Uncertain significance 0.172 benign 해석 →
K285N Uncertain significance 0.825 pathogenic 해석 →
K285N Uncertain significance 0.825 pathogenic 해석 →
K294R Uncertain significance 0.078 benign 해석 →
K30E Uncertain significance 0.380 ambiguous 해석 →
K30Q Uncertain significance 0.176 benign 해석 →
K546T Uncertain significance 0.584 pathogenic 해석 →
L352V Uncertain significance 0.169 benign 해석 →
L390F Uncertain significance 0.114 benign 해석 →
L41P Uncertain significance 0.068 benign 해석 →
L569S Uncertain significance 0.733 pathogenic 해석 →
L592V Uncertain significance 0.105 benign 해석 →
M172T Uncertain significance 0.965 pathogenic 해석 →
M263T Uncertain significance 1.000 pathogenic 해석 →
M336I Uncertain significance 0.842 pathogenic 해석 →
M336T Uncertain significance 0.493 ambiguous 해석 →
M487V Uncertain significance 0.090 benign 해석 →
M492R Uncertain significance 0.657 pathogenic 해석 →
M606T Uncertain significance 0.557 ambiguous 해석 →
M606V Uncertain significance 0.177 benign 해석 →
N196H Uncertain significance 0.484 ambiguous 해석 →
N213H Uncertain significance 0.886 pathogenic 해석 →
N368H Likely benign 0.078 benign ✓ 해석 →
N368S Conflicting classifications of pathogeni 0.057 benign 해석 →
N519S Uncertain significance 0.059 benign 해석 →
P114A Uncertain significance 0.054 benign 해석 →
P132R Uncertain significance 0.100 benign 해석 →
P220F Uncertain significance 0.984 pathogenic 해석 →
P220T Uncertain significance 0.641 pathogenic 해석 →
P229S Uncertain significance 0.989 pathogenic 해석 →
P268L Uncertain significance 0.990 pathogenic 해석 →
P451S Uncertain significance 0.056 benign 해석 →
P455R Uncertain significance 0.633 pathogenic 해석 →
P526R Uncertain significance 0.782 pathogenic 해석 →
P570S Uncertain significance 0.071 benign 해석 →
P85L Uncertain significance 0.078 benign 해석 →
P85S Uncertain significance 0.065 benign 해석 →
P9R Uncertain significance 0.227 benign 해석 →
Q184R Uncertain significance 0.678 pathogenic 해석 →
Q31H Uncertain significance 0.154 benign 해석 →
Q33R Uncertain significance 0.097 benign 해석 →
Q495K Uncertain significance 0.540 ambiguous 해석 →
Q567H Uncertain significance 0.243 benign 해석 →
R128Q Uncertain significance 0.072 benign 해석 →
R140Q Uncertain significance 0.083 benign 해석 →
R151L Uncertain significance 0.942 pathogenic 해석 →
R167H Uncertain significance 0.999 pathogenic 해석 →
R167S Uncertain significance 1.000 pathogenic 해석 →
R221G Uncertain significance 0.995 pathogenic 해석 →
R221H Uncertain significance 0.955 pathogenic 해석 →
R221L Uncertain significance 0.995 pathogenic 해석 →
R269* Uncertain significance — 미적재 해석 →
R269Q Uncertain significance 0.675 pathogenic 해석 →
R274H Uncertain significance 0.156 benign 해석 →
R274L Uncertain significance 0.314 benign 해석 →
R316H Uncertain significance 0.950 pathogenic 해석 →
R349Q Uncertain significance 0.676 pathogenic 해석 →
R422H Likely benign 0.139 benign ✓ 해석 →
R429Q Uncertain significance 0.094 benign 해석 →
R440T Uncertain significance 0.742 pathogenic 해석 →
R566Q Uncertain significance 0.256 benign 해석 →
R5Q Uncertain significance 0.394 ambiguous 해석 →
S113L Uncertain significance 0.096 benign 해석 →
S117Y Uncertain significance 0.112 benign 해석 →
S177F Uncertain significance 0.303 benign 해석 →
S205N Uncertain significance 0.973 pathogenic 해석 →
S344A Uncertain significance 0.349 ambiguous 해석 →
S370T Uncertain significance 0.068 benign 해석 →
S463G Uncertain significance 0.058 benign 해석 →
S479G Uncertain significance 0.067 benign 해석 →
S537C Uncertain significance 0.222 benign 해석 →
S580T Uncertain significance 0.081 benign 해석 →
S594G Uncertain significance 0.061 benign 해석 →
S67F Uncertain significance 0.103 benign 해석 →
T131I Uncertain significance 0.087 benign 해석 →
T373I Likely benign 0.139 benign ✓ 해석 →
T464P Uncertain significance 0.060 benign 해석 →
T520A Uncertain significance 0.060 benign 해석 →
T591A Uncertain significance 0.085 benign 해석 →
T82K Uncertain significance 0.114 benign 해석 →
T82M Uncertain significance 0.114 benign 해석 →
V192A Uncertain significance 0.730 pathogenic 해석 →
V192L Uncertain significance 0.298 benign 해석 →
V218A Uncertain significance 0.873 pathogenic 해석 →
V22M Uncertain significance 0.975 pathogenic 해석 →
V272I Likely benign 0.069 benign ✓ 해석 →
V342L Uncertain significance 0.703 pathogenic 해석 →
V382I Uncertain significance 0.068 benign 해석 →
V460M Uncertain significance 0.075 benign 해석 →
V466M Uncertain significance 0.076 benign 해석 →
V572M Uncertain significance 0.080 benign 해석 →
Y430C Uncertain significance 0.235 benign 해석 →
R166K - 0.998 pathogenic 해석 →
R422S - 0.491 ambiguous 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.