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

PAX2: AM vs ClinVar 일치도

289 변이
✓ 둘 다 병원성
40
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
249
AM ↔ ClinVar 비교 가능 변이 40건 중 40건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A111T Pathogenic 0.999 pathogenic ✓ 해석 →
A311V Conflicting classifications of pathogeni — 미적재 해석 →
E113* Pathogenic — 미적재 해석 →
E121* Pathogenic — 미적재 해석 →
E267* Pathogenic — 미적재 해석 →
E291* Likely pathogenic — 미적재 해석 →
E74* Pathogenic — 미적재 해석 →
G189R Pathogenic 0.999 pathogenic ✓ 해석 →
G24A Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
G24E Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G24R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G24R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G24V Likely pathogenic 1.000 pathogenic ✓ 해석 →
G24W Likely pathogenic 1.000 pathogenic ✓ 해석 →
G25E Likely pathogenic 1.000 pathogenic ✓ 해석 →
G328V Likely pathogenic — 미적재 해석 →
G63S Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G76D Likely pathogenic 1.000 pathogenic ✓ 해석 →
G76R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G76S Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G84S Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G85C Likely pathogenic 1.000 pathogenic ✓ 해석 →
G85D Pathogenic 1.000 pathogenic ✓ 해석 →
G85V Likely pathogenic 1.000 pathogenic ✓ 해석 →
H321* Likely pathogenic — 미적재 해석 →
I78M Likely pathogenic 0.982 pathogenic ✓ 해석 →
K89* Likely pathogenic — 미적재 해석 →
L33V Likely pathogenic 0.996 pathogenic ✓ 해석 →
L69P Likely pathogenic 1.000 pathogenic ✓ 해석 →
P130R Likely pathogenic 1.000 pathogenic ✓ 해석 →
P130S Likely pathogenic 1.000 pathogenic ✓ 해석 →
P80L Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
P80Q Likely pathogenic 0.999 pathogenic ✓ 해석 →
P88R Pathogenic 1.000 pathogenic ✓ 해석 →
Q144* Pathogenic — 미적재 해석 →
Q145* Likely pathogenic — 미적재 해석 →
Q236* Pathogenic — 미적재 해석 →
Q255* Likely pathogenic — 미적재 해석 →
Q353P Likely benign — 미적재 해석 →
Q39* Likely pathogenic — 미적재 해석 →
Q57* Likely pathogenic — 미적재 해석 →
R104* Pathogenic — 미적재 해석 →
R115* Pathogenic — 미적재 해석 →
R115P Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
R137* Pathogenic — 미적재 해석 →
R140L Likely pathogenic 0.999 pathogenic ✓ 해석 →
R140Q Likely pathogenic 0.999 pathogenic ✓ 해석 →
R140W Pathogenic 1.000 pathogenic ✓ 해석 →
R229* Pathogenic — 미적재 해석 →
R31P Likely pathogenic 0.999 pathogenic ✓ 해석 →
R31W Likely pathogenic 0.999 pathogenic ✓ 해석 →
R38K Likely pathogenic 0.998 pathogenic ✓ 해석 →
R50G Likely pathogenic 1.000 pathogenic ✓ 해석 →
R50W Likely pathogenic 1.000 pathogenic ✓ 해석 →
R56Q Uncertain significance 0.999 pathogenic 해석 →
R56W Likely pathogenic 1.000 pathogenic ✓ 해석 →
R59W Likely pathogenic 0.999 pathogenic ✓ 해석 →
R71G Likely pathogenic 0.999 pathogenic ✓ 해석 →
R71M Likely pathogenic 1.000 pathogenic ✓ 해석 →
R71T Pathogenic 1.000 pathogenic ✓ 해석 →
S262* Pathogenic — 미적재 해석 →
S282* Likely pathogenic — 미적재 해석 →
S297* Pathogenic/Likely pathogenic — 미적재 해석 →
S61I Likely pathogenic 1.000 pathogenic ✓ 해석 →
T75I Likely pathogenic 1.000 pathogenic ✓ 해석 →
T92M Likely pathogenic 0.998 pathogenic ✓ 해석 →
Y250* Pathogenic — 미적재 해석 →
Y302* Pathogenic — 미적재 해석 →
Y302* Pathogenic — 미적재 해석 →
Y318* Pathogenic — 미적재 해석 →
Y318* Pathogenic — 미적재 해석 →
Y73* Pathogenic — 미적재 해석 →
Y73* Pathogenic — 미적재 해석 →
Y73H Likely pathogenic 0.998 pathogenic ✓ 해석 →
A120V Uncertain significance 0.777 pathogenic 해석 →
A154T Uncertain significance 0.057 benign 해석 →
A154V Uncertain significance 0.076 benign 해석 →
A160T Uncertain significance 0.061 benign 해석 →
A177T Uncertain significance 0.081 benign 해석 →
A177V Uncertain significance 0.125 benign 해석 →
A230T Uncertain significance — 미적재 해석 →
A272P Uncertain significance — 미적재 해석 →
A272T Uncertain significance — 미적재 해석 →
A386D Uncertain significance — 미적재 해석 →
A5T Uncertain significance — 미적재 해석 →
A91V Uncertain significance 0.999 pathogenic 해석 →
C52R Uncertain significance 1.000 pathogenic 해석 →
C5S Uncertain significance 0.573 pathogenic 해석 →
C64R Uncertain significance 1.000 pathogenic 해석 →
D125V Uncertain significance 0.989 pathogenic 해석 →
D180N Uncertain significance 0.502 ambiguous 해석 →
D216E Uncertain significance — 미적재 해석 →
D222G Uncertain significance — 미적재 해석 →
D222N Uncertain significance — 미적재 해석 →
D231G Uncertain significance — 미적재 해석 →
D278H Uncertain significance — 미적재 해석 →
D278Y Uncertain significance — 미적재 해석 →
D35H Uncertain significance 0.996 pathogenic 해석 →
D35N Uncertain significance 0.953 pathogenic 해석 →
D53N Uncertain significance 0.998 pathogenic 해석 →
E101Q Uncertain significance 0.528 ambiguous 해석 →
E113K Uncertain significance 1.000 pathogenic 해석 →
E121D Uncertain significance 0.648 pathogenic 해석 →
E121K Uncertain significance 0.996 pathogenic 해석 →
E121Q Uncertain significance 0.957 pathogenic 해석 →
E199G Uncertain significance 0.605 pathogenic 해석 →
E199Q Uncertain significance 0.646 pathogenic 해석 →
E239D Uncertain significance — 미적재 해석 →
E279K Uncertain significance — 미적재 해석 →
E291D Uncertain significance — 미적재 해석 →
E343D Uncertain significance — 미적재 해석 →
E359Q Conflicting classifications of pathogeni — 미적재 해석 →
E74K Uncertain significance 1.000 pathogenic 해석 →
F363V Uncertain significance — 미적재 해석 →
G155A Uncertain significance 0.066 benign 해석 →
G192R Uncertain significance 0.999 pathogenic 해석 →
G198D Uncertain significance 0.806 pathogenic 해석 →
G210S Uncertain significance — 미적재 해석 →
G220D Uncertain significance 0.161 benign 해석 →
G25A Uncertain significance 0.996 pathogenic 해석 →
G25V Uncertain significance 0.999 pathogenic 해석 →
G265E Uncertain significance — 미적재 해석 →
G265R Uncertain significance — 미적재 해석 →
G265W Uncertain significance — 미적재 해석 →
G30D Uncertain significance 1.000 pathogenic 해석 →
G326S Uncertain significance — 미적재 해석 →
G328R Uncertain significance — 미적재 해석 →
G341V Uncertain significance — 미적재 해석 →
G63D Uncertain significance 1.000 pathogenic 해석 →
G81V Uncertain significance 0.999 pathogenic 해석 →
G84C Uncertain significance 1.000 pathogenic 해석 →
H17R Uncertain significance 0.764 pathogenic 해석 →
H227R Uncertain significance — 미적재 해석 →
H259N Uncertain significance — 미적재 해석 →
H259Y Uncertain significance — 미적재 해석 →
H394P Likely benign — 미적재 해석 →
H62Q Uncertain significance 1.000 pathogenic 해석 →
I123V Uncertain significance 0.084 benign 해석 →
I165T Uncertain significance 0.588 pathogenic 해석 →
I68N Uncertain significance 1.000 pathogenic 해석 →
I83T Uncertain significance 0.999 pathogenic 해석 →
I99M Uncertain significance 0.993 pathogenic 해석 →
K281R Uncertain significance — 미적재 해석 →
L118F Uncertain significance 0.999 pathogenic 해석 →
L118V Uncertain significance 0.997 pathogenic 해석 →
L119P Uncertain significance 1.000 pathogenic 해석 →
L238P Uncertain significance — 미적재 해석 →
L270F Uncertain significance — 미적재 해석 →
L277F Uncertain significance — 미적재 해석 →
M109I Uncertain significance 0.988 pathogenic 해석 →
M109T Uncertain significance 0.999 pathogenic 해석 →
M1K Uncertain significance 0.827 pathogenic 해석 →
M1V Uncertain significance 0.167 benign 해석 →
M310K Uncertain significance — 미적재 해석 →
M338I Uncertain significance — 미적재 해석 →
M3K Uncertain significance 0.571 pathogenic 해석 →
M3T Uncertain significance 0.378 ambiguous 해석 →
M3V Uncertain significance 0.077 benign 해석 →
N179S Uncertain significance 0.060 benign 해석 →
N188D Uncertain significance 0.859 pathogenic 해석 →
N188S Uncertain significance 0.104 benign 해석 →
N197S Uncertain significance 0.084 benign 해석 →
N214S Uncertain significance — 미적재 해석 →
N21K Uncertain significance 1.000 pathogenic 해석 →
N266S Uncertain significance — 미적재 해석 →
N289D Uncertain significance 0.248 benign 해석 →
N289K Conflicting classifications of pathogeni 0.522 ambiguous 해석 →
N358K Uncertain significance — 미적재 해석 →
P107L Uncertain significance 0.998 pathogenic 해석 →
P146L Uncertain significance 0.268 benign 해석 →
P149S Conflicting classifications of pathogeni 0.099 benign 해석 →
P151A Uncertain significance 0.057 benign 해석 →
P151L Uncertain significance 0.096 benign 해석 →
P151Q Uncertain significance 0.119 benign 해석 →
P161L Uncertain significance 0.115 benign 해석 →
P161S Uncertain significance 0.078 benign 해석 →
P172L Uncertain significance 0.186 benign 해석 →
P173S Uncertain significance 0.260 benign 해석 →
P213R Uncertain significance — 미적재 해석 →
P251S Uncertain significance — 미적재 해석 →
P271R Uncertain significance 0.654 pathogenic 해석 →
P271S Uncertain significance 0.280 benign 해석 →
P290S Uncertain significance — 미적재 해석 →
P303A Uncertain significance — 미적재 해석 →
P320H Uncertain significance — 미적재 해석 →
P320L Uncertain significance — 미적재 해석 →
P320R Uncertain significance — 미적재 해석 →
P323S Uncertain significance — 미적재 해석 →
P324H Uncertain significance — 미적재 해석 →
P340L Uncertain significance — 미적재 해석 →
P366S Conflicting classifications of pathogeni — 미적재 해석 →
P80A Uncertain significance 0.974 pathogenic 해석 →
P88H Uncertain significance 1.000 pathogenic 해석 →
P88L Uncertain significance 1.000 pathogenic 해석 →
P9R Uncertain significance 0.564 pathogenic 해석 →
Q144H Uncertain significance 0.867 pathogenic 해석 →
Q236K Uncertain significance — 미적재 해석 →
Q237R Uncertain significance — 미적재 해석 →
Q39H Uncertain significance 0.781 pathogenic 해석 →
Q47P 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.