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

BCHE: AM vs ClinVar 일치도

159 변이
✓ 둘 다 병원성
4
✓ 둘 다 양성
3
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
0
— AM 미적재
150
AM ↔ ClinVar 비교 가능 변이 9건 중 7건 일치 / 2건 불일치 — 일치도 77.8%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A212V Conflicting classifications of pathogeni 0.083 benign 해석 →
A567T Conflicting classifications of pathogeni 0.085 benign 해석 →
C428* Likely pathogenic — 미적재 해석 →
D198E Likely pathogenic 0.931 pathogenic ✓ 해석 →
D98G Pathogenic/Likely pathogenic 0.426 ambiguous 해석 →
E118* Likely pathogenic — 미적재 해석 →
E299* Likely pathogenic — 미적재 해석 →
E377* Pathogenic — 미적재 해석 →
E395* Likely pathogenic — 미적재 해석 →
E510* Likely pathogenic — 미적재 해석 →
E525V Uncertain significance 0.185 benign 해석 →
F392* Likely pathogenic — 미적재 해석 →
F56I Conflicting classifications of pathogeni 0.737 pathogenic 해석 →
G143D Pathogenic 0.817 pathogenic ✓ 해석 →
G253* Likely pathogenic — 미적재 해석 →
G393R Pathogenic 0.578 pathogenic ✓ 해석 →
G418V Likely pathogenic 0.185 benign ⚠ 해석 →
K295R Conflicting classifications of pathogeni 0.080 benign 해석 →
L335P Pathogenic/Likely pathogenic 0.453 ambiguous 해석 →
L358I Pathogenic/Likely pathogenic 0.134 benign ⚠ 해석 →
P128S Pathogenic 0.521 ambiguous 해석 →
Q147* Likely pathogenic — 미적재 해석 →
Q207* Likely pathogenic — 미적재 해석 →
Q339* Likely pathogenic — 미적재 해석 →
Q344* Likely pathogenic — 미적재 해석 →
Q408* Likely pathogenic — 미적재 해석 →
Q526* Likely pathogenic — 미적재 해석 →
Q99* Likely pathogenic — 미적재 해석 →
R414C Pathogenic/Likely pathogenic 0.430 ambiguous 해석 →
R452* Pathogenic/Likely pathogenic — 미적재 해석 →
R543C Uncertain significance 0.393 ambiguous 해석 →
R70* Likely pathogenic — 미적재 해석 →
S226G Conflicting classifications of pathogeni 0.386 ambiguous 해석 →
T271M Conflicting classifications of pathogeni 0.147 benign 해석 →
V170M Likely pathogenic 0.466 ambiguous 해석 →
W15* Likely pathogenic — 미적재 해석 →
W205* Likely pathogenic — 미적재 해석 →
W259* Pathogenic — 미적재 해석 →
W499* Likely pathogenic — 미적재 해석 →
W499R Likely pathogenic 0.982 pathogenic ✓ 해석 →
Y156C Pathogenic 0.373 ambiguous 해석 →
Y528* Pathogenic/Likely pathogenic — 미적재 해석 →
A356D Uncertain significance 0.416 ambiguous 해석 →
A430D Uncertain significance 0.673 pathogenic 해석 →
A444T Uncertain significance 0.081 benign 해석 →
A544P Uncertain significance 0.312 benign 해석 →
A544V Uncertain significance 0.146 benign 해석 →
A567V Uncertain significance 0.109 benign 해석 →
A62V Uncertain significance 0.701 pathogenic 해석 →
C20G Uncertain significance 0.066 benign 해석 →
C9G Uncertain significance 0.051 benign 해석 →
D115Y Uncertain significance 0.087 benign 해석 →
D296G Uncertain significance 0.120 benign 해석 →
D296V Uncertain significance 0.105 benign 해석 →
D368V Uncertain significance 0.247 benign 해석 →
D406G Uncertain significance 0.079 benign 해석 →
D419V Uncertain significance 0.155 benign 해석 →
D482E Uncertain significance 0.086 benign 해석 →
D584A Uncertain significance 0.178 benign 해석 →
D591N Uncertain significance 0.086 benign 해석 →
E283D Conflicting classifications of pathogeni 0.074 benign 해석 →
E488K Uncertain significance 0.798 pathogenic 해석 →
F365L Uncertain significance 0.925 pathogenic 해석 →
F392L Uncertain significance 0.334 benign 해석 →
F502L Uncertain significance 0.971 pathogenic 해석 →
G103R Uncertain significance 0.269 benign 해석 →
G195C Uncertain significance 0.717 pathogenic 해석 →
G214S Uncertain significance 0.183 benign 해석 →
G24E Uncertain significance 0.077 benign 해석 →
G338R Uncertain significance 0.137 benign 해석 →
G381A Uncertain significance 0.109 benign 해석 →
G381V Uncertain significance 0.190 benign 해석 →
G388V Uncertain significance 0.105 benign 해석 →
G418A Uncertain significance 0.097 benign 해석 →
G467A Uncertain significance 0.233 benign 해석 →
G601V Uncertain significance 0.093 benign 해석 →
G67C Uncertain significance 0.319 benign 해석 →
H105R Conflicting classifications of pathogeni 0.051 benign 해석 →
H27Y Uncertain significance 0.059 benign 해석 →
I10N Uncertain significance 0.062 benign 해석 →
I168T Uncertain significance 0.294 benign 해석 →
I23V Conflicting classifications of pathogeni 0.065 benign 해석 →
I288L Uncertain significance 0.075 benign 해석 →
I288V Uncertain significance 0.082 benign 해석 →
I333M Uncertain significance 0.068 benign 해석 →
I33V Likely benign 0.062 benign ✓ 해석 →
I384V Conflicting classifications of pathogeni 0.071 benign 해석 →
I538T Uncertain significance 0.101 benign 해석 →
K342E Uncertain significance 0.082 benign 해석 →
K383I Uncertain significance 0.174 benign 해석 →
K40R Uncertain significance 0.063 benign 해석 →
K556I Uncertain significance 0.383 ambiguous 해석 →
K572R Uncertain significance 0.095 benign 해석 →
K586R Uncertain significance 0.084 benign 해석 →
L13I Uncertain significance 0.067 benign 해석 →
L153F Uncertain significance 0.413 ambiguous 해석 →
L222I Uncertain significance 0.077 benign 해석 →
L222P Uncertain significance 0.797 pathogenic 해석 →
L327H Uncertain significance 0.754 pathogenic 해석 →
M109I Uncertain significance 0.400 ambiguous 해석 →
M194T Uncertain significance 0.164 benign 해석 →
M1T drug response 0.145 benign 해석 →
N124Y Uncertain significance 0.897 pathogenic 해석 →
N134S Uncertain significance 0.129 benign 해석 →
N187K Uncertain significance 0.387 ambiguous 해석 →
N294I Uncertain significance 0.121 benign 해석 →
N294Y Uncertain significance 0.091 benign 해석 →
N369K Uncertain significance 0.236 benign 해석 →
N38H Uncertain significance 0.077 benign 해석 →
N38S Uncertain significance 0.065 benign 해석 →
N443H Conflicting classifications of pathogeni 0.062 benign 해석 →
N45S Uncertain significance 0.077 benign 해석 →
N514Y Uncertain significance 0.087 benign 해석 →
N532S Uncertain significance 0.069 benign 해석 →
N579S Conflicting classifications of pathogeni 0.075 benign 해석 →
P132A Uncertain significance 0.139 benign 해석 →
P217T Uncertain significance 0.099 benign 해석 →
P258S Uncertain significance 0.107 benign 해석 →
P309L Uncertain significance 0.101 benign 해석 →
P313S Uncertain significance 0.095 benign 해석 →
P320A Uncertain significance 0.231 benign 해석 →
P363S Uncertain significance 0.142 benign 해석 →
P363T Uncertain significance 0.122 benign 해석 →
P519L Uncertain significance 0.240 benign 해석 →
Q204R Uncertain significance 0.073 benign 해석 →
R480G Uncertain significance 0.124 benign 해석 →
R481K Uncertain significance 0.072 benign 해석 →
R498W Uncertain significance 0.123 benign 해석 →
R548* Uncertain significance — 미적재 해석 →
R548L Uncertain significance 0.135 benign 해석 →
S515T Uncertain significance 0.072 benign 해석 →
S594I Uncertain significance 0.143 benign 해석 →
S92A Uncertain significance 0.122 benign 해석 →
T246P Uncertain significance 0.158 benign 해석 →
T28A Uncertain significance 0.062 benign 해석 →
T343S Uncertain significance 0.133 benign 해석 →
T511S Uncertain significance 0.084 benign 해석 →
T52M Uncertain significance 0.083 benign 해석 →
T593A Uncertain significance 0.069 benign 해석 →
T6S Likely benign 0.077 benign ✓ 해석 →
T87S Uncertain significance 0.104 benign 해석 →
V170A Uncertain significance 0.393 ambiguous 해석 →
V206I Uncertain significance 0.084 benign 해석 →
V232D Uncertain significance 0.897 pathogenic 해석 →
V307L Uncertain significance 0.170 benign 해석 →
V308F Uncertain significance 0.073 benign 해석 →
V359G Uncertain significance 0.242 benign 해석 →
V496M Likely benign 0.061 benign ✓ 해석 →
W15G Uncertain significance 0.058 benign 해석 →
Y174C Uncertain significance 0.557 ambiguous 해석 →
Y505H Uncertain significance 0.097 benign 해석 →
Y528F Uncertain significance 0.111 benign 해석 →
Y61C Uncertain significance 0.494 ambiguous 해석 →
E489* - — 미적재 해석 →
G388E - 0.072 benign 해석 →
G506V - 0.803 pathogenic 해석 →
L161V - 0.206 benign 해석 →
R414G - 0.524 ambiguous 해석 →
V405L - 0.075 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.