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

SMAD4: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
29
✓ 둘 다 양성
1
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
1
— AM 미적재
468
AM ↔ ClinVar 비교 가능 변이 32건 중 30건 일치 / 2건 불일치 — 일치도 93.8%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*553C Likely pathogenic — 미적재 해석 →
A532D Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C127Y Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C363G Likely pathogenic 0.999 pathogenic ✓ 해석 →
C363R Pathogenic 1.000 pathogenic ✓ 해석 →
C363Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C499R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
D351H Likely pathogenic 1.000 pathogenic ✓ 해석 →
D351V Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
D415E Pathogenic 1.000 pathogenic ✓ 해석 →
D493H Pathogenic 1.000 pathogenic ✓ 해석 →
D537G Uncertain significance 1.000 pathogenic 해석 →
E330G Likely pathogenic 0.999 pathogenic ✓ 해석 →
E41* Pathogenic — 미적재 해석 →
E538* Likely pathogenic — 미적재 해석 →
G168* Likely pathogenic — 미적재 해석 →
G252* Pathogenic — 미적재 해석 →
G352R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G358* Pathogenic — 미적재 해석 →
G386D Pathogenic 1.000 pathogenic ✓ 해석 →
G386S Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G386V Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G508D Likely pathogenic 1.000 pathogenic ✓ 해석 →
G510V Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G89* Pathogenic — 미적재 해석 →
H111* Pathogenic — 미적재 해석 →
I383M Likely pathogenic 0.986 pathogenic ✓ 해석 →
I383R Likely pathogenic 1.000 pathogenic ✓ 해석 →
I383T Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
I500L Pathogenic 0.850 pathogenic ✓ 해석 →
I500M Pathogenic 0.886 pathogenic ✓ 해석 →
I500T Pathogenic 0.991 pathogenic ✓ 해석 →
I500V Pathogenic 0.616 pathogenic ✓ 해석 →
K340* Pathogenic — 미적재 해석 →
K436* Pathogenic — 미적재 해석 →
L280* Pathogenic — 미적재 해석 →
L364W Likely pathogenic 1.000 pathogenic ✓ 해석 →
L381* Pathogenic — 미적재 해석 →
L414* Pathogenic — 미적재 해석 →
L529* Pathogenic — 미적재 해석 →
L533P Likely pathogenic 1.000 pathogenic ✓ 해석 →
Q149* Pathogenic — 미적재 해석 →
Q169* Pathogenic/Likely pathogenic — 미적재 해석 →
Q180* Pathogenic — 미적재 해석 →
Q183* Pathogenic — 미적재 해석 →
Q245* Pathogenic — 미적재 해석 →
Q245P Pathogenic 0.062 benign ⚠ 해석 →
Q248* Pathogenic — 미적재 해석 →
Q256* Pathogenic — 미적재 해석 →
Q284* Pathogenic — 미적재 해석 →
Q311* Pathogenic — 미적재 해석 →
Q366* Pathogenic — 미적재 해석 →
Q388* Pathogenic — 미적재 해석 →
Q442* Pathogenic — 미적재 해석 →
Q446* Likely pathogenic — 미적재 해석 →
Q449* Pathogenic — 미적재 해석 →
Q450* Pathogenic — 미적재 해석 →
Q455* Pathogenic — 미적재 해석 →
Q461* Pathogenic — 미적재 해석 →
Q516* Pathogenic/Likely pathogenic — 미적재 해석 →
Q534* Pathogenic — 미적재 해석 →
Q75* Pathogenic — 미적재 해석 →
Q83* Pathogenic — 미적재 해석 →
R135* Pathogenic — 미적재 해석 →
R361C Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
R361G Pathogenic 0.999 pathogenic ✓ 해석 →
R361H Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
R361S Likely pathogenic 1.000 pathogenic ✓ 해석 →
R380G Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
R380K Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
R445* Pathogenic — 미적재 해석 →
R496C Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
R515* Pathogenic — 미적재 해석 →
R97L Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
S138* Pathogenic — 미적재 해석 →
S138* Pathogenic — 미적재 해석 →
S154* Pathogenic — 미적재 해석 →
S178* Pathogenic/Likely pathogenic — 미적재 해석 →
S178* Pathogenic — 미적재 해석 →
S234* Pathogenic — 미적재 해석 →
S242* Pathogenic — 미적재 해석 →
S343* Pathogenic — 미적재 해석 →
S403* Pathogenic — 미적재 해석 →
T453I Likely pathogenic 0.996 pathogenic ✓ 해석 →
V437I Conflicting classifications of pathogeni 0.756 pathogenic 해석 →
W101* Pathogenic — 미적재 해석 →
W101* Pathogenic — 미적재 해석 →
W268* Pathogenic — 미적재 해석 →
W302* Pathogenic — 미적재 해석 →
W302* Pathogenic — 미적재 해석 →
W323* Pathogenic — 미적재 해석 →
W323* Pathogenic — 미적재 해석 →
W398* Pathogenic — 미적재 해석 →
W398* Pathogenic — 미적재 해석 →
W524* Pathogenic — 미적재 해석 →
W524* Pathogenic — 미적재 해석 →
W524C Likely pathogenic 1.000 pathogenic ✓ 해석 →
W99* Pathogenic/Likely pathogenic — 미적재 해석 →
W99* Pathogenic — 미적재 해석 →
Y133* Pathogenic — 미적재 해석 →
Y133* Pathogenic — 미적재 해석 →
Y195* Pathogenic — 미적재 해석 →
Y195* Likely pathogenic — 미적재 해석 →
Y195* Pathogenic — 미적재 해석 →
Y260* Pathogenic — 미적재 해석 →
Y260* Pathogenic — 미적재 해석 →
Y276* Pathogenic — 미적재 해석 →
Y276* Pathogenic — 미적재 해석 →
Y301* Pathogenic — 미적재 해석 →
Y301* Pathogenic — 미적재 해석 →
Y353* Pathogenic — 미적재 해석 →
Y353* Pathogenic/Likely pathogenic — 미적재 해석 →
Y353C Likely pathogenic 0.976 pathogenic ✓ 해석 →
Y353S Likely pathogenic 0.988 pathogenic ✓ 해석 →
Y412* Pathogenic — 미적재 해석 →
Y413* Pathogenic — 미적재 해석 →
Y413* Pathogenic — 미적재 해석 →
Y430* Pathogenic — 미적재 해석 →
*553R Uncertain significance — 미적재 해석 →
*553S Uncertain significance — 미적재 해석 →
A118V Uncertain significance 0.996 pathogenic 해석 →
A152D Uncertain significance 0.383 ambiguous 해석 →
A152T Uncertain significance 0.065 benign 해석 →
A152V Uncertain significance 0.071 benign 해석 →
A15S Uncertain significance 0.917 pathogenic 해석 →
A15T Uncertain significance 0.992 pathogenic 해석 →
A15V Uncertain significance 0.996 pathogenic 해석 →
A190G Uncertain significance 0.071 benign 해석 →
A190P Uncertain significance 0.075 benign 해석 →
A190S Uncertain significance 0.066 benign 해석 →
A190T Uncertain significance 0.062 benign 해석 →
A190V Uncertain significance 0.071 benign 해석 →
A202T Uncertain significance 0.062 benign 해석 →
A202V Uncertain significance 0.085 benign 해석 →
A208G Uncertain significance 0.073 benign 해석 →
A208S Uncertain significance 0.067 benign 해석 →
A208T Uncertain significance 0.059 benign 해석 →
A212G Uncertain significance 0.078 benign 해석 →
A212T Conflicting classifications of pathogeni 0.057 benign 해석 →
A212V Uncertain significance 0.096 benign 해석 →
A220V Uncertain significance 0.110 benign 해석 →
A226P Uncertain significance 0.073 benign 해석 →
A226V Conflicting classifications of pathogeni 0.079 benign 해석 →
A241P Uncertain significance 0.120 benign 해석 →
A241T Uncertain significance 0.088 benign 해석 →
A241V Uncertain significance 0.163 benign 해석 →
A258S Uncertain significance 0.063 benign 해석 →
A258T Uncertain significance 0.073 benign 해석 →
A258V Uncertain significance 0.110 benign 해석 →
A274T Uncertain significance 0.069 benign 해석 →
A274V Uncertain significance 0.089 benign 해석 →
A309G Uncertain significance 0.124 benign 해석 →
A309P Uncertain significance 0.147 benign 해석 →
A309T Uncertain significance 0.107 benign 해석 →
A309V Uncertain significance 0.150 benign 해석 →
A319S Uncertain significance 0.115 benign 해석 →
A36S Uncertain significance 0.112 benign 해석 →
A36V Uncertain significance 0.975 pathogenic 해석 →
A375D Uncertain significance 0.846 pathogenic 해석 →
A375T Uncertain significance 0.158 benign 해석 →
A375V Conflicting classifications of pathogeni 0.278 benign 해석 →
A379P Uncertain significance 0.999 pathogenic 해석 →
A379V Uncertain significance 0.983 pathogenic 해석 →
A406T Uncertain significance 0.992 pathogenic 해석 →
A406V Uncertain significance 0.998 pathogenic 해석 →
A418S Uncertain significance 0.878 pathogenic 해석 →
A418V Uncertain significance 0.998 pathogenic 해석 →
A421V Uncertain significance 0.835 pathogenic 해석 →
A425T Uncertain significance 0.988 pathogenic 해석 →
A433T Uncertain significance 0.974 pathogenic 해석 →
A451E Uncertain significance 0.999 pathogenic 해석 →
A451S Uncertain significance 0.923 pathogenic 해석 →
A451V Uncertain significance 0.980 pathogenic 해석 →
A452S Uncertain significance 0.300 benign 해석 →
A452V Uncertain significance 0.594 pathogenic 해석 →
A456T Uncertain significance 0.944 pathogenic 해석 →
A458T Uncertain significance 0.913 pathogenic 해석 →
A458V Uncertain significance 0.804 pathogenic 해석 →
A459T Uncertain significance 0.451 ambiguous 해석 →
A460V Uncertain significance 0.980 pathogenic 해석 →
A462V Uncertain significance 0.961 pathogenic 해석 →
A463T Uncertain significance 0.986 pathogenic 해석 →
A466S Uncertain significance 0.187 benign 해석 →
A466T Uncertain significance 0.713 pathogenic 해석 →
A466V Uncertain significance 0.718 pathogenic 해석 →
A481P Uncertain significance 0.991 pathogenic 해석 →
A486P Uncertain significance 0.986 pathogenic 해석 →
A488T Uncertain significance 0.792 pathogenic 해석 →
A488V Uncertain significance 0.912 pathogenic 해석 →
A532S Uncertain significance 0.873 pathogenic 해석 →
A546V Uncertain significance 0.191 benign 해석 →
A60D Uncertain significance 1.000 pathogenic 해석 →
A60T Uncertain significance 0.961 pathogenic 해석 →
A60V Uncertain significance 0.986 pathogenic 해석 →
A66T Uncertain significance 0.160 benign 해석 →
A66V Uncertain significance 0.228 benign 해석 →
A96G Uncertain significance 0.749 pathogenic 해석 →
A96S Uncertain significance 0.213 benign 해석 →
A96V Uncertain significance 0.927 pathogenic 해석 →
C115Y Uncertain significance 1.000 pathogenic 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.