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

NKX2-5: AM vs ClinVar 일치도

446 변이
✓ 둘 다 병원성
21
✓ 둘 다 양성
11
⚠ CV=병원성 / AM=양성
3
⚠ CV=양성 / AM=병원성
0
— AM 미적재
411
AM ↔ ClinVar 비교 가능 변이 35건 중 32건 일치 / 3건 불일치 — 일치도 91.4%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A119S Benign/Likely benign 0.093 benign ✓ 해석 →
A127E Uncertain significance 0.128 benign 해석 →
A148E Likely pathogenic 0.833 pathogenic ✓ 해석 →
A219V Uncertain significance 0.813 pathogenic 해석 →
A61G Pathogenic 0.082 benign ⚠ 해석 →
C114* Pathogenic — 미적재 해석 →
D299G Pathogenic 0.562 ambiguous 해석 →
E131K Pathogenic 0.389 ambiguous 해석 →
E154G Pathogenic 0.998 pathogenic ✓ 해석 →
F145L Pathogenic 1.000 pathogenic ✓ 해석 →
F157V Likely pathogenic 1.000 pathogenic ✓ 해석 →
I184F Likely pathogenic 1.000 pathogenic ✓ 해석 →
I184M Likely pathogenic 0.999 pathogenic ✓ 해석 →
K104* Pathogenic — 미적재 해석 →
K110* Pathogenic — 미적재 해석 →
K15I Pathogenic 0.974 pathogenic ✓ 해석 →
K183E Pathogenic 1.000 pathogenic ✓ 해석 →
L153P Likely pathogenic 1.000 pathogenic ✓ 해석 →
L153V Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
L171P Pathogenic 1.000 pathogenic ✓ 해석 →
L171R Pathogenic 0.996 pathogenic ✓ 해석 →
N188K Pathogenic 1.000 pathogenic ✓ 해석 →
N19D Likely pathogenic 0.385 ambiguous 해석 →
P236H Conflicting classifications of pathogeni 0.265 benign 해석 →
P257A Uncertain significance 0.072 benign 해석 →
P283Q Uncertain significance 0.112 benign 해석 →
P59A Pathogenic 0.057 benign ⚠ 해석 →
Q159* Pathogenic/Likely pathogenic — 미적재 해석 →
Q170* Pathogenic — 미적재 해석 →
Q181H Pathogenic 1.000 pathogenic ✓ 해석 →
Q181K Likely pathogenic 0.998 pathogenic ✓ 해석 →
Q187* Likely pathogenic — 미적재 해석 →
Q198* Pathogenic — 미적재 해석 →
Q22K Likely pathogenic 0.192 benign ⚠ 해석 →
Q22R Uncertain significance 0.178 benign 해석 →
R161P Uncertain significance 0.992 pathogenic 해석 →
R189G Pathogenic 1.000 pathogenic ✓ 해석 →
R190C Uncertain significance 1.000 pathogenic 해석 →
R190H Pathogenic 0.999 pathogenic ✓ 해석 →
R216C Uncertain significance 0.928 pathogenic 해석 →
R25C Conflicting classifications of pathogeni 0.176 benign 해석 →
S146* Pathogenic — 미적재 해석 →
S164* Pathogenic/Likely pathogenic — 미적재 해석 →
S234* Pathogenic/Likely pathogenic — 미적재 해석 →
T178M Pathogenic 0.997 pathogenic ✓ 해석 →
V182A Likely pathogenic 0.999 pathogenic ✓ 해석 →
W185* Pathogenic — 미적재 해석 →
W185L Pathogenic 0.998 pathogenic ✓ 해석 →
Y151* Pathogenic — 미적재 해석 →
Y162* Pathogenic — 미적재 해석 →
Y191* Pathogenic — 미적재 해석 →
Y191C Pathogenic 1.000 pathogenic ✓ 해석 →
Y191H Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y237* Pathogenic — 미적재 해석 →
Y237* Pathogenic/Likely pathogenic — 미적재 해석 →
Y248* Pathogenic — 미적재 해석 →
Y256* Pathogenic — 미적재 해석 →
Y256* Pathogenic — 미적재 해석 →
Y259* Likely pathogenic — 미적재 해석 →
Y259* Pathogenic — 미적재 해석 →
Y268* Likely pathogenic — 미적재 해석 →
Y274* Conflicting classifications of pathogeni — 미적재 해석 →
Y56* Pathogenic — 미적재 해석 →
Y93* Pathogenic — 미적재 해석 →
Y97* Pathogenic — 미적재 해석 →
A108P Uncertain significance 0.093 benign 해석 →
A108T Conflicting classifications of pathogeni 0.067 benign 해석 →
A108V Uncertain significance 0.078 benign 해석 →
A115G Uncertain significance 0.096 benign 해석 →
A115P Uncertain significance 0.102 benign 해석 →
A115V Uncertain significance 0.087 benign 해석 →
A119E Conflicting classifications of pathogeni 0.202 benign 해석 →
A119V Likely benign 0.105 benign ✓ 해석 →
A127G Uncertain significance 0.076 benign 해석 →
A127V Uncertain significance 0.081 benign 해석 →
A130T Uncertain significance 0.065 benign 해석 →
A135E Uncertain significance 0.431 ambiguous 해석 →
A135G Uncertain significance 0.118 benign 해석 →
A148G Uncertain significance 0.607 pathogenic 해석 →
A148T Uncertain significance 0.294 benign 해석 →
A165D Uncertain significance 0.999 pathogenic 해석 →
A165G Uncertain significance 0.703 pathogenic 해석 →
A165V Uncertain significance 0.974 pathogenic 해석 →
A172T Uncertain significance 0.999 pathogenic 해석 →
A215V Uncertain significance 0.219 benign 해석 →
A219T Uncertain significance 0.689 pathogenic 해석 →
A235V Uncertain significance 0.094 benign 해석 →
A238V Uncertain significance 0.103 benign 해석 →
A252T Uncertain significance 0.075 benign 해석 →
A252V Conflicting classifications of pathogeni 0.143 benign 해석 →
A255T Uncertain significance 0.083 benign 해석 →
A262S Uncertain significance 0.067 benign 해석 →
A263P Uncertain significance 0.090 benign 해석 →
A273P Uncertain significance 0.095 benign 해석 →
A276G Conflicting classifications of pathogeni 0.070 benign 해석 →
A276T Conflicting classifications of pathogeni 0.080 benign 해석 →
A281E Uncertain significance 0.354 ambiguous 해석 →
A281T Uncertain significance 0.073 benign 해석 →
A281V Uncertain significance 0.077 benign 해석 →
A284V Uncertain significance 0.095 benign 해석 →
A286V Uncertain significance 0.103 benign 해석 →
A288S Uncertain significance 0.079 benign 해석 →
A288T Uncertain significance 0.073 benign 해석 →
A288V Uncertain significance 0.110 benign 해석 →
A28T Conflicting classifications of pathogeni 0.091 benign 해석 →
A29T Uncertain significance 0.086 benign 해석 →
A30D Uncertain significance 0.161 benign 해석 →
A30S Uncertain significance 0.079 benign 해석 →
A30T Uncertain significance 0.082 benign 해석 →
A323G Uncertain significance 0.454 ambiguous 해석 →
A35T Uncertain significance 0.079 benign 해석 →
A39G Uncertain significance 0.085 benign 해석 →
A42P Likely benign 0.083 benign ✓ 해석 →
A42T Uncertain significance 0.079 benign 해석 →
A42V Uncertain significance 0.102 benign 해석 →
A57D Uncertain significance 0.163 benign 해석 →
A57P Uncertain significance 0.079 benign 해석 →
A57S Conflicting classifications of pathogeni 0.079 benign 해석 →
A61V Uncertain significance 0.097 benign 해석 →
A62P Uncertain significance 0.080 benign 해석 →
A63T Uncertain significance 0.079 benign 해석 →
A63V Conflicting classifications of pathogeni 0.085 benign 해석 →
A71P Conflicting classifications of pathogeni 0.085 benign 해석 →
A76E Uncertain significance 0.114 benign 해석 →
A80S Uncertain significance 0.083 benign 해석 →
A83G Uncertain significance 0.074 benign 해석 →
A83T Conflicting classifications of pathogeni 0.072 benign 해석 →
A83V Uncertain significance 0.087 benign 해석 →
A85V Uncertain significance 0.099 benign 해석 →
A89D Uncertain significance 0.220 benign 해석 →
A89P Uncertain significance 0.084 benign 해석 →
A91S Uncertain significance 0.074 benign 해석 →
A96T Uncertain significance 0.074 benign 해석 →
A96V Uncertain significance 0.097 benign 해석 →
C114G Uncertain significance 0.134 benign 해석 →
C114W Uncertain significance 0.492 ambiguous 해석 →
C193Y Uncertain significance 0.974 pathogenic 해석 →
C264R Uncertain significance 0.829 pathogenic 해석 →
C270Y Conflicting classifications of pathogeni 0.559 ambiguous 해석 →
C82S Uncertain significance 0.086 benign 해석 →
C82Y Uncertain significance 0.139 benign 해석 →
D101E Uncertain significance 0.101 benign 해석 →
D101G Uncertain significance 0.151 benign 해석 →
D101H Uncertain significance 0.245 benign 해석 →
D101V Uncertain significance 0.138 benign 해석 →
D105E Uncertain significance 0.103 benign 해석 →
D128H Uncertain significance 0.255 benign 해석 →
D128N Uncertain significance 0.115 benign 해석 →
D169E Uncertain significance 0.334 benign 해석 →
D169G Uncertain significance 0.968 pathogenic 해석 →
D169N Uncertain significance 0.888 pathogenic 해석 →
D169Y Uncertain significance 0.977 pathogenic 해석 →
D16N Uncertain significance 0.979 pathogenic 해석 →
D199E Uncertain significance 0.906 pathogenic 해석 →
D226G Uncertain significance 0.958 pathogenic 해석 →
D226N Uncertain significance 0.926 pathogenic 해석 →
D233H Uncertain significance 0.699 pathogenic 해석 →
D299E Uncertain significance 0.197 benign 해석 →
D99Y Uncertain significance 0.200 benign 해석 →
E109K Uncertain significance 0.192 benign 해석 →
E123K Uncertain significance 0.256 benign 해석 →
E123Q Uncertain significance 0.118 benign 해석 →
E126A Uncertain significance 0.083 benign 해석 →
E167K Uncertain significance 0.998 pathogenic 해석 →
E203G Uncertain significance 0.823 pathogenic 해석 →
E21Q Conflicting classifications of pathogeni 0.480 ambiguous 해석 →
E32D Uncertain significance 0.060 benign 해석 →
E60K Uncertain significance 0.234 benign 해석 →
E60Q Conflicting classifications of pathogeni 0.124 benign 해석 →
F12S Uncertain significance 0.999 pathogenic 해석 →
F145L Uncertain significance 1.000 pathogenic 해석 →
F145L Uncertain significance 1.000 pathogenic 해석 →
F186L Uncertain significance 1.000 pathogenic 해석 →
F186L Uncertain significance 1.000 pathogenic 해석 →
F295L Uncertain significance 0.881 pathogenic 해석 →
F295L Uncertain significance 0.881 pathogenic 해석 →
F86S Likely benign 0.274 benign ✓ 해석 →
F92V Uncertain significance 0.154 benign 해석 →
G206E Uncertain significance 0.846 pathogenic 해석 →
G227D Uncertain significance 0.994 pathogenic 해석 →
G232A Conflicting classifications of pathogeni 0.159 benign 해석 →
G232R Uncertain significance 0.851 pathogenic 해석 →
G242R Uncertain significance 0.840 pathogenic 해석 →
G242S Uncertain significance 0.076 benign 해석 →
G244S Uncertain significance 0.078 benign 해석 →
G258D Uncertain significance 0.541 ambiguous 해석 →
G258S Uncertain significance 0.068 benign 해석 →
G267R Uncertain significance 0.728 pathogenic 해석 →
G267S Uncertain significance 0.073 benign 해석 →
G277R Uncertain significance 0.660 pathogenic 해석 →
G277R Uncertain significance 0.660 pathogenic 해석 →
G277W Uncertain significance 0.466 ambiguous 해석 →
G296C Uncertain significance 0.258 benign 해석 →
G296D Uncertain significance 0.825 pathogenic 해석 →
G296S Uncertain significance 0.068 benign 해석 →
G298E Uncertain significance 0.850 pathogenic 해석 →
G314* Uncertain significance — 미적재 해석 →
G314E Uncertain significance 0.789 pathogenic 해석 →
G31R Uncertain significance 0.365 ambiguous 해석 →
G320D Uncertain significance 0.983 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.