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

PAX3: AM vs ClinVar 일치도

255 변이
✓ 둘 다 병원성
65
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
2
— AM 미적재
180
AM ↔ ClinVar 비교 가능 변이 75건 중 71건 일치 / 4건 불일치 — 일치도 94.7%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A177G Likely pathogenic 0.067 benign ⚠ 해석 →
A196T Likely pathogenic 0.077 benign ⚠ 해석 →
C355* Likely pathogenic — 미적재 해석 →
C70* Pathogenic/Likely pathogenic — 미적재 해석 →
C82* Likely pathogenic — 미적재 해석 →
C82W Likely pathogenic 1.000 pathogenic ✓ 해석 →
E119D Likely pathogenic 0.533 ambiguous 해석 →
E120* Pathogenic — 미적재 해석 →
E235* Pathogenic — 미적재 해석 →
E239* Pathogenic — 미적재 해석 →
F238S Pathogenic 1.000 pathogenic ✓ 해석 →
G42R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G42S Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G43C Pathogenic 1.000 pathogenic ✓ 해석 →
G43S Likely pathogenic 1.000 pathogenic ✓ 해석 →
G48C Likely pathogenic 1.000 pathogenic ✓ 해석 →
G48R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G48V Likely pathogenic 1.000 pathogenic ✓ 해석 →
G66R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G81A Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G81C Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G81D Likely pathogenic 1.000 pathogenic ✓ 해석 →
G81R Pathogenic 1.000 pathogenic ✓ 해석 →
G94V Likely pathogenic 1.000 pathogenic ✓ 해석 →
H80D Pathogenic 1.000 pathogenic ✓ 해석 →
H80Q Likely pathogenic 1.000 pathogenic ✓ 해석 →
H80R Likely pathogenic 1.000 pathogenic ✓ 해석 →
H80Y Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
I72F Likely pathogenic 1.000 pathogenic ✓ 해석 →
I72V Likely pathogenic 0.977 pathogenic ✓ 해석 →
I86F Likely pathogenic 1.000 pathogenic ✓ 해석 →
K116* Pathogenic — 미적재 해석 →
K139* Pathogenic — 미적재 해석 →
K164* Pathogenic — 미적재 해석 →
K85E Likely pathogenic 1.000 pathogenic ✓ 해석 →
K85N Pathogenic 1.000 pathogenic ✓ 해석 →
L231P Likely pathogenic 1.000 pathogenic ✓ 해석 →
L252P Likely pathogenic 1.000 pathogenic ✓ 해석 →
M62T Likely pathogenic 1.000 pathogenic ✓ 해석 →
M62V Pathogenic 0.997 pathogenic ✓ 해석 →
N47D Likely pathogenic 1.000 pathogenic ✓ 해석 →
N47H Pathogenic 0.999 pathogenic ✓ 해석 →
N47K Likely pathogenic 1.000 pathogenic ✓ 해석 →
P50L Pathogenic 1.000 pathogenic ✓ 해석 →
P50T Likely pathogenic 1.000 pathogenic ✓ 해석 →
Q18* Pathogenic — 미적재 해석 →
Q200* Pathogenic — 미적재 해석 →
Q230K Likely pathogenic 0.997 pathogenic ✓ 해석 →
Q264* Likely pathogenic — 미적재 해석 →
Q264H Likely pathogenic 1.000 pathogenic ✓ 해석 →
Q264P Likely pathogenic 1.000 pathogenic ✓ 해석 →
Q277* Pathogenic — 미적재 해석 →
Q313* Pathogenic — 미적재 해석 →
Q319* Pathogenic — 미적재 해석 →
Q332* Likely pathogenic — 미적재 해석 →
Q341* Likely pathogenic — 미적재 해석 →
Q35* Pathogenic — 미적재 해석 →
Q40* Pathogenic — 미적재 해석 →
Q405* Pathogenic — 미적재 해석 →
Q91* Pathogenic — 미적재 해석 →
R145* Likely pathogenic — 미적재 해석 →
R195* Pathogenic — 미적재 해석 →
R223* Pathogenic — 미적재 해석 →
R223L Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
R223Q Pathogenic 1.000 pathogenic ✓ 해석 →
R236S Pathogenic 0.925 pathogenic ✓ 해석 →
R262* Pathogenic — 미적재 해석 →
R270C Pathogenic 1.000 pathogenic ✓ 해석 →
R270H Likely pathogenic 0.999 pathogenic ✓ 해석 →
R270P Likely pathogenic 1.000 pathogenic ✓ 해석 →
R271C Pathogenic 1.000 pathogenic ✓ 해석 →
R271G Pathogenic 1.000 pathogenic ✓ 해석 →
R271H Pathogenic 1.000 pathogenic ✓ 해석 →
R271P Pathogenic 1.000 pathogenic ✓ 해석 →
R56C Likely pathogenic 1.000 pathogenic ✓ 해석 →
R56L Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
R68W Likely pathogenic 1.000 pathogenic ✓ 해석 →
R89G Likely pathogenic 1.000 pathogenic ✓ 해석 →
R89T Pathogenic 1.000 pathogenic ✓ 해석 →
R97P Likely pathogenic 0.999 pathogenic ✓ 해석 →
S197* Pathogenic — 미적재 해석 →
S201* Likely pathogenic — 미적재 해석 →
S201* Pathogenic — 미적재 해석 →
S268R Likely pathogenic 1.000 pathogenic ✓ 해석 →
S389* Pathogenic — 미적재 해석 →
S426* Pathogenic/Likely pathogenic — 미적재 해석 →
S73L Pathogenic 1.000 pathogenic ✓ 해석 →
S73W Likely pathogenic 1.000 pathogenic ✓ 해석 →
S79C Pathogenic 1.000 pathogenic ✓ 해석 →
S84F Pathogenic 1.000 pathogenic ✓ 해석 →
T224I Pathogenic 1.000 pathogenic ✓ 해석 →
V265F Likely pathogenic 0.999 pathogenic ✓ 해석 →
V60L Likely pathogenic 0.999 pathogenic ✓ 해석 →
V60M Likely pathogenic 1.000 pathogenic ✓ 해석 →
V78E Likely pathogenic 1.000 pathogenic ✓ 해석 →
V78L Likely pathogenic 1.000 pathogenic ✓ 해석 →
V78M Pathogenic 1.000 pathogenic ✓ 해석 →
W266* Pathogenic — 미적재 해석 →
W266S Likely pathogenic 1.000 pathogenic ✓ 해석 →
W274* Pathogenic — 미적재 해석 →
W274* Pathogenic — 미적재 해석 →
Y243* Pathogenic — 미적재 해석 →
Y312* Pathogenic — 미적재 해석 →
Y410* Pathogenic — 미적재 해석 →
Y90* Pathogenic/Likely pathogenic — 미적재 해석 →
Y90C Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y90H Pathogenic 1.000 pathogenic ✓ 해석 →
Y90S Pathogenic 1.000 pathogenic ✓ 해석 →
A170D Uncertain significance 0.102 benign 해석 →
A170T Likely benign 0.065 benign ✓ 해석 →
A228V Uncertain significance 0.520 ambiguous 해석 →
A237P Uncertain significance 1.000 pathogenic 해석 →
A256V Uncertain significance 0.920 pathogenic 해석 →
A285V Uncertain significance 0.503 ambiguous 해석 →
A353S Uncertain significance 0.068 benign 해석 →
A411T Uncertain significance 0.091 benign 해석 →
A411V Uncertain significance 0.172 benign 해석 →
A5G Uncertain significance 0.118 benign 해석 →
A5T Uncertain significance 0.133 benign 해석 →
A7S Uncertain significance 0.078 benign 해석 →
C449Y Uncertain significance 0.562 ambiguous 해석 →
C70Y Uncertain significance 1.000 pathogenic 해석 →
D113E Uncertain significance 0.104 benign 해석 →
D135G Uncertain significance 0.965 pathogenic 해석 →
D189N Uncertain significance 0.416 ambiguous 해석 →
D208G Uncertain significance 0.857 pathogenic 해석 →
D323G Uncertain significance 0.431 ambiguous 해석 →
E169K Uncertain significance 0.253 benign 해석 →
E194K Conflicting classifications of pathogeni 0.423 ambiguous 해석 →
E232Q Uncertain significance 0.843 pathogenic 해석 →
E235Q Uncertain significance 0.994 pathogenic 해석 →
E309D Uncertain significance 0.055 benign 해석 →
E420* Uncertain significance — 미적재 해석 →
F162L Uncertain significance 0.964 pathogenic 해석 →
F25L Uncertain significance 0.923 pathogenic 해석 →
G127R Uncertain significance 0.975 pathogenic 해석 →
G24V Likely benign 0.544 ambiguous 해석 →
G279R Uncertain significance 0.996 pathogenic 해석 →
G292R Uncertain significance 0.850 pathogenic 해석 →
G34C Uncertain significance 0.993 pathogenic 해석 →
G387D Uncertain significance 0.566 pathogenic 해석 →
G394E Uncertain significance 0.801 pathogenic 해석 →
G418V Uncertain significance 0.125 benign 해석 →
G43D Uncertain significance 1.000 pathogenic 해석 →
G48S Uncertain significance 1.000 pathogenic 해석 →
G66S Uncertain significance 0.999 pathogenic 해석 →
G6R Uncertain significance 0.895 pathogenic 해석 →
G94C Uncertain significance 1.000 pathogenic 해석 →
G99C Uncertain significance 0.998 pathogenic 해석 →
H288R Uncertain significance 0.644 pathogenic 해석 →
H399D Likely benign 0.229 benign ✓ 해석 →
H65N Uncertain significance 0.464 ambiguous 해석 →
I188M Uncertain significance 0.931 pathogenic 해석 →
I191F Uncertain significance 0.959 pathogenic 해석 →
I191T Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
I207T Uncertain significance 0.146 benign 해석 →
I384T Uncertain significance 0.124 benign 해석 →
I55V Uncertain significance 0.463 ambiguous 해석 →
I72T Uncertain significance 1.000 pathogenic 해석 →
I96T Uncertain significance 1.000 pathogenic 해석 →
K107N Uncertain significance 0.992 pathogenic 해석 →
K122E Uncertain significance 0.995 pathogenic 해석 →
K136E Uncertain significance 0.885 pathogenic 해석 →
K175N Benign/Likely benign 0.475 ambiguous 해석 →
K183Q Uncertain significance 0.220 benign 해석 →
K183R Uncertain significance 0.073 benign 해석 →
K58R Uncertain significance 0.232 benign 해석 →
L172S Uncertain significance 0.079 benign 해석 →
L258H Uncertain significance 1.000 pathogenic 해석 →
L388V Uncertain significance 0.112 benign 해석 →
L433P Uncertain significance 0.253 benign 해석 →
L442R Uncertain significance 0.410 ambiguous 해석 →
L76R Uncertain significance 1.000 pathogenic 해석 →
M128V Uncertain significance 0.256 benign 해석 →
M460V Uncertain significance 0.049 benign 해석 →
M62K Uncertain significance 0.997 pathogenic 해석 →
N39S Uncertain significance 0.998 pathogenic 해석 →
P106L Uncertain significance 0.797 pathogenic 해석 →
P112S Uncertain significance 0.140 benign 해석 →
P16L Uncertain significance 0.086 benign 해석 →
P16S Uncertain significance 0.072 benign 해석 →
P244H Uncertain significance 1.000 pathogenic 해석 →
P244S Uncertain significance 1.000 pathogenic 해석 →
P26L Uncertain significance 0.345 ambiguous 해석 →
P291S Uncertain significance 0.439 ambiguous 해석 →
P333L Uncertain significance 0.597 pathogenic 해석 →
P333Q Uncertain significance 0.787 pathogenic 해석 →
P335S Conflicting classifications of pathogeni 0.703 pathogenic 해석 →
P357S Uncertain significance 0.062 benign 해석 →
P372L Uncertain significance 0.112 benign 해석 →
P372S Uncertain significance 0.062 benign 해석 →
P373L Conflicting classifications of pathogeni 0.117 benign 해석 →
P376H Uncertain significance 0.111 benign 해석 →
P376S Uncertain significance 0.062 benign 해석 →
P379S Uncertain significance 0.069 benign 해석 →
P382H Uncertain significance 0.174 benign 해석 →
P403L Uncertain significance 0.170 benign 해석 →
P406L Uncertain significance 0.134 benign 해석 →
P406T Uncertain significance 0.071 benign 해석 →
P414S Uncertain significance 0.202 benign 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.