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

KIT: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
30
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
465
AM ↔ ClinVar 비교 가능 변이 35건 중 35건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A533D Pathogenic 0.973 pathogenic ✓ 해석 →
A608D Likely pathogenic 1.000 pathogenic ✓ 해석 →
A621T Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
A829P Pathogenic 0.997 pathogenic ✓ 해석 →
C136R Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
D816H Pathogenic 0.999 pathogenic ✓ 해석 →
D816V Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
D816Y Uncertain significance 0.998 pathogenic 해석 →
D820G Uncertain significance 0.998 pathogenic 해석 →
D820Y Pathogenic 0.994 pathogenic ✓ 해석 →
E376* Pathogenic — 미적재 해석 →
E583K Likely pathogenic 0.998 pathogenic ✓ 해석 →
E839K Pathogenic 0.998 pathogenic ✓ 해석 →
F584C Pathogenic 0.998 pathogenic ✓ 해석 →
F584L Uncertain significance 0.999 pathogenic 해석 →
G601R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G664R Pathogenic 0.993 pathogenic ✓ 해석 →
I808F Likely pathogenic 0.998 pathogenic ✓ 해석 →
I808M Pathogenic 0.974 pathogenic ✓ 해석 →
I883T Likely pathogenic 0.994 pathogenic ✓ 해석 →
K509I Pathogenic 0.379 ambiguous 해석 →
K642E Pathogenic 0.999 pathogenic ✓ 해석 →
L576P Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
L667R Likely pathogenic 0.991 pathogenic ✓ 해석 →
M541L Benign/Likely benign 0.083 benign ✓ 해석 →
N655K Pathogenic 0.998 pathogenic ✓ 해석 →
N655K Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
N822I Pathogenic 0.963 pathogenic ✓ 해석 →
N822K Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
N822K Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
N958S Conflicting classifications of pathogeni 0.110 benign 해석 →
P832S Likely pathogenic 1.000 pathogenic ✓ 해석 →
Q190* Pathogenic — 미적재 해석 →
Q346* Pathogenic — 미적재 해석 →
Q427* Likely pathogenic — 미적재 해석 →
Q448* Conflicting classifications of pathogeni — 미적재 해석 →
Q549H Likely pathogenic 0.768 pathogenic ✓ 해석 →
Q556* Pathogenic — 미적재 해석 →
Q694* Pathogenic — 미적재 해석 →
R796G Pathogenic 1.000 pathogenic ✓ 해석 →
S197L Conflicting classifications of pathogeni 0.747 pathogenic 해석 →
T304A Conflicting classifications of pathogeni 0.093 benign 해석 →
T847P Pathogenic 0.985 pathogenic ✓ 해석 →
V559A Pathogenic/Likely pathogenic 0.943 pathogenic ✓ 해석 →
V559D Pathogenic 0.997 pathogenic ✓ 해석 →
V560D Likely pathogenic 0.995 pathogenic ✓ 해석 →
V620A Pathogenic 0.977 pathogenic ✓ 해석 →
W557* Pathogenic — 미적재 해석 →
W557R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y146* Pathogenic — 미적재 해석 →
Y418* Pathogenic — 미적재 해석 →
Y494* Pathogenic — 미적재 해석 →
Y553S Conflicting classifications of pathogeni 0.964 pathogenic 해석 →
Y855C Conflicting classifications of pathogeni 0.968 pathogenic 해석 →
Y900* Pathogenic — 미적재 해석 →
*977L Uncertain significance — 미적재 해석 →
*977S Uncertain significance — 미적재 해석 →
A115T Uncertain significance 0.071 benign 해석 →
A115V Uncertain significance 0.101 benign 해석 →
A168E Uncertain significance 0.127 benign 해석 →
A168G Uncertain significance 0.143 benign 해석 →
A168T Uncertain significance 0.094 benign 해석 →
A168V Conflicting classifications of pathogeni 0.129 benign 해석 →
A178S Conflicting classifications of pathogeni 0.077 benign 해석 →
A178T Conflicting classifications of pathogeni 0.075 benign 해석 →
A178V Conflicting classifications of pathogeni 0.119 benign 해석 →
A210F Uncertain significance 0.297 benign 해석 →
A210V Uncertain significance 0.127 benign 해석 →
A219T Conflicting classifications of pathogeni 0.066 benign 해석 →
A219V Uncertain significance 0.099 benign 해석 →
A273T Uncertain significance 0.088 benign 해석 →
A280T Uncertain significance 0.097 benign 해석 →
A280V Conflicting classifications of pathogeni 0.103 benign 해석 →
A292T Uncertain significance 0.533 ambiguous 해석 →
A292V Uncertain significance 0.637 pathogenic 해석 →
A299E Uncertain significance 0.385 ambiguous 해석 →
A299T Uncertain significance 0.106 benign 해석 →
A339V Uncertain significance 0.565 pathogenic 해석 →
A401S Likely benign 0.083 benign ✓ 해석 →
A401T Conflicting classifications of pathogeni 0.076 benign 해석 →
A402S Uncertain significance 0.058 benign 해석 →
A402T Uncertain significance 0.068 benign 해석 →
A402V Uncertain significance 0.115 benign 해석 →
A404E Uncertain significance 0.163 benign 해석 →
A404T Conflicting classifications of pathogeni 0.059 benign 해석 →
A430T Uncertain significance 0.315 benign 해석 →
A430V Uncertain significance 0.263 benign 해석 →
A431S Conflicting classifications of pathogeni 0.088 benign 해석 →
A431T Conflicting classifications of pathogeni 0.087 benign 해석 →
A452T Uncertain significance 0.062 benign 해석 →
A482E Uncertain significance 0.109 benign 해석 →
A482P Uncertain significance 0.156 benign 해석 →
A482S Uncertain significance 0.068 benign 해석 →
A482T Uncertain significance 0.063 benign 해석 →
A482V Uncertain significance 0.068 benign 해석 →
A493T Uncertain significance 0.459 ambiguous 해석 →
A4F Uncertain significance 0.405 ambiguous 해석 →
A4P Uncertain significance 0.301 benign 해석 →
A4S Uncertain significance 0.156 benign 해석 →
A4T Uncertain significance 0.321 benign 해석 →
A4V Uncertain significance 0.517 ambiguous 해석 →
A502S Uncertain significance 0.094 benign 해석 →
A502V Uncertain significance 0.147 benign 해석 →
A507S Uncertain significance 0.101 benign 해석 →
A507V Uncertain significance 0.183 benign 해석 →
A533G Uncertain significance 0.194 benign 해석 →
A533T Uncertain significance 0.128 benign 해석 →
A533V Uncertain significance 0.246 benign 해석 →
A597T Uncertain significance 0.670 pathogenic 해석 →
A597V Uncertain significance 0.900 pathogenic 해석 →
A606T Uncertain significance 0.998 pathogenic 해석 →
A616E Uncertain significance 0.279 benign 해석 →
A616G Uncertain significance 0.156 benign 해석 →
A616T Uncertain significance 0.083 benign 해석 →
A616V Uncertain significance 0.154 benign 해석 →
A617D Uncertain significance 0.652 pathogenic 해석 →
A617V Uncertain significance 0.165 benign 해석 →
A621V Uncertain significance 0.998 pathogenic 해석 →
A629T Uncertain significance 0.976 pathogenic 해석 →
A636V Uncertain significance 0.997 pathogenic 해석 →
A659D Uncertain significance 1.000 pathogenic 해석 →
A659T Uncertain significance 0.988 pathogenic 해석 →
A698E Uncertain significance 0.129 benign 해석 →
A698G Conflicting classifications of pathogeni 0.086 benign 해석 →
A698S Uncertain significance 0.078 benign 해석 →
A698V Uncertain significance 0.083 benign 해석 →
A700S Uncertain significance 0.088 benign 해석 →
A700T Uncertain significance 0.072 benign 해석 →
A700V Uncertain significance 0.081 benign 해석 →
A701E Uncertain significance 0.313 benign 해석 →
A701G Uncertain significance 0.143 benign 해석 →
A701V Uncertain significance 0.129 benign 해석 →
A755S Uncertain significance 0.091 benign 해석 →
A755T Conflicting classifications of pathogeni 0.087 benign 해석 →
A755V Uncertain significance 0.120 benign 해석 →
A763T Uncertain significance 0.347 ambiguous 해석 →
A777S Uncertain significance 0.303 benign 해석 →
A777T Uncertain significance 0.971 pathogenic 해석 →
A781T Uncertain significance 0.138 benign 해석 →
A784D Uncertain significance 0.919 pathogenic 해석 →
A784G Uncertain significance 0.355 ambiguous 해석 →
A784S Uncertain significance 0.095 benign 해석 →
A784T Conflicting classifications of pathogeni 0.212 benign 해석 →
A795G Uncertain significance 0.958 pathogenic 해석 →
A7G Uncertain significance 0.125 benign 해석 →
A7S Uncertain significance 0.143 benign 해석 →
A7T Uncertain significance 0.202 benign 해석 →
A7V Uncertain significance 0.285 benign 해석 →
A87G Uncertain significance 0.312 benign 해석 →
A895S Uncertain significance 0.192 benign 해석 →
A895T Uncertain significance 0.658 pathogenic 해석 →
A897P Uncertain significance 0.082 benign 해석 →
A897T Uncertain significance 0.072 benign 해석 →
A89T Uncertain significance 0.137 benign 해석 →
A909L Uncertain significance 0.214 benign 해석 →
A909S Uncertain significance 0.089 benign 해석 →
A909T Uncertain significance 0.093 benign 해석 →
A909V Uncertain significance 0.127 benign 해석 →
A940E Uncertain significance 0.117 benign 해석 →
A940G Uncertain significance 0.085 benign 해석 →
A940P Uncertain significance 0.086 benign 해석 →
A940S Uncertain significance 0.075 benign 해석 →
A964S Uncertain significance 0.072 benign 해석 →
A964T Uncertain significance 0.064 benign 해석 →
C12R Uncertain significance 0.360 ambiguous 해석 →
C12S Uncertain significance 0.112 benign 해석 →
C443S Uncertain significance 0.982 pathogenic 해석 →
C450F Uncertain significance 0.909 pathogenic 해석 →
C450R Uncertain significance 0.981 pathogenic 해석 →
C450W Uncertain significance 0.972 pathogenic 해석 →
C491R Uncertain significance 0.999 pathogenic 해석 →
C537Y Uncertain significance 0.469 ambiguous 해석 →
C691F Uncertain significance 0.063 benign 해석 →
C691S Uncertain significance 0.153 benign 해석 →
C691Y Uncertain significance 0.079 benign 해석 →
C714R Uncertain significance 0.110 benign 해석 →
C788Y Uncertain significance 0.999 pathogenic 해석 →
C809G Uncertain significance 0.720 pathogenic 해석 →
C809S Uncertain significance 0.987 pathogenic 해석 →
C844R Uncertain significance 0.927 pathogenic 해석 →
C844S Uncertain significance 0.760 pathogenic 해석 →
C844Y Uncertain significance 0.910 pathogenic 해석 →
C906S Uncertain significance 0.939 pathogenic 해석 →
C942* Uncertain significance — 미적재 해석 →
C942F Uncertain significance 0.067 benign 해석 →
C942R Uncertain significance 0.086 benign 해석 →
D113G Uncertain significance 0.795 pathogenic 해석 →
D121H Uncertain significance 0.171 benign 해석 →
D121V Uncertain significance 0.239 benign 해석 →
D129E Conflicting classifications of pathogeni 0.206 benign 해석 →
D129G Conflicting classifications of pathogeni 0.076 benign 해석 →
D129H Uncertain significance 0.451 ambiguous 해석 →
D131N Uncertain significance 0.141 benign 해석 →
D131Y Uncertain significance 0.498 ambiguous 해석 →
D140E Uncertain significance 0.518 ambiguous 해석 →
D140N Uncertain significance 0.141 benign 해석 →
D140Y Uncertain significance 0.281 benign 해석 →
D159H Uncertain significance 0.367 ambiguous 해석 →
D159Y Uncertain significance 0.273 benign 해석 →
D165F Uncertain significance 0.649 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.