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

TNFSF11: AM vs ClinVar 일치도

102 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
4
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
97
AM ↔ ClinVar 비교 가능 변이 5건 중 5건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
M199K Pathogenic 0.988 pathogenic ✓ 해석 →
R223* Likely pathogenic — 미적재 해석 →
A142T Uncertain significance 0.072 benign 해석 →
A145V Uncertain significance 0.085 benign 해석 →
A162T Uncertain significance 0.058 benign 해석 →
A172T Uncertain significance 0.112 benign 해석 →
A37G Uncertain significance 0.084 benign 해석 →
A51V Uncertain significance 0.283 benign 해석 →
A65S Uncertain significance 0.337 benign 해석 →
A72T Conflicting classifications of pathogeni 0.135 benign 해석 →
D153H Uncertain significance 0.127 benign 해석 →
D174N Conflicting classifications of pathogeni 0.060 benign 해석 →
D211G Uncertain significance 0.452 ambiguous 해석 →
D304G Uncertain significance 0.692 pathogenic 해석 →
D82N Uncertain significance 0.109 benign 해석 →
D98H Uncertain significance 0.142 benign 해석 →
E16A Uncertain significance 0.303 benign 해석 →
E16G Uncertain significance 0.225 benign 해석 →
E17V Uncertain significance 0.533 ambiguous 해석 →
E27D Uncertain significance 0.098 benign 해석 →
E27G Benign 0.134 benign ✓ 해석 →
E27K Uncertain significance 0.369 ambiguous 해석 →
E27Q Uncertain significance 0.162 benign 해석 →
E292K Uncertain significance 0.264 benign 해석 →
E292Q Uncertain significance 0.086 benign 해석 →
F280S Uncertain significance 0.965 pathogenic 해석 →
F68L Uncertain significance 0.094 benign 해석 →
F70L Uncertain significance 0.919 pathogenic 해석 →
G178V Uncertain significance 0.544 ambiguous 해석 →
G20S Uncertain significance 0.073 benign 해석 →
G28D Uncertain significance 0.195 benign 해석 →
H180Q Uncertain significance 0.097 benign 해석 →
H224R Uncertain significance 0.649 pathogenic 해석 →
H31L Uncertain significance 0.086 benign 해석 →
H31P Uncertain significance 0.038 benign 해석 →
H85L Uncertain significance 0.114 benign 해석 →
H85R Uncertain significance 0.066 benign 해석 →
I140M Conflicting classifications of pathogeni 0.070 benign 해석 →
I175V Uncertain significance 0.170 benign 해석 →
I207T Uncertain significance 0.079 benign 해석 →
I316M Uncertain significance 0.102 benign 해석 →
I90V Uncertain significance 0.140 benign 해석 →
K10E Uncertain significance 0.610 pathogenic 해석 →
K10N Uncertain significance 0.736 pathogenic 해석 →
K282T Uncertain significance 0.701 pathogenic 해석 →
L160F Uncertain significance 0.076 benign 해석 →
L298F Uncertain significance 0.363 ambiguous 해석 →
L52V Uncertain significance 0.101 benign 해석 →
M18K Uncertain significance 0.284 benign 해석 →
M18T Uncertain significance 0.230 benign 해석 →
M1I Uncertain significance 0.822 pathogenic 해석 →
M1K Uncertain significance 0.814 pathogenic 해석 →
M1R Uncertain significance 0.664 pathogenic 해석 →
M1T Uncertain significance 0.847 pathogenic 해석 →
M239T Uncertain significance 0.961 pathogenic 해석 →
M48K Uncertain significance 0.616 pathogenic 해석 →
M48T Uncertain significance 0.151 benign 해석 →
M74V Uncertain significance 0.233 benign 해석 →
P22S Uncertain significance 0.064 benign 해석 →
P301L Uncertain significance 0.288 benign 해석 →
P33Q Conflicting classifications of pathogeni 0.092 benign 해석 →
P34Q Uncertain significance 0.087 benign 해석 →
P34R Benign 0.124 benign ✓ 해석 →
P36R Benign/Likely benign 0.125 benign ✓ 해석 →
P42R Uncertain significance 0.116 benign 해석 →
Q138L Uncertain significance 0.134 benign 해석 →
R117K Uncertain significance 0.069 benign 해석 →
R118I Uncertain significance 0.153 benign 해석 →
R13G Uncertain significance 0.324 benign 해석 →
R13H Uncertain significance 0.379 ambiguous 해석 →
R157K Uncertain significance 0.066 benign 해석 →
R191Q Uncertain significance 0.138 benign 해석 →
R284Q Uncertain significance 0.121 benign 해석 →
R284W Uncertain significance 0.222 benign 해석 →
R6G Uncertain significance 0.471 ambiguous 해석 →
S115L Uncertain significance 0.164 benign 해석 →
S228L Uncertain significance 0.092 benign 해석 →
S252F Uncertain significance 0.144 benign 해석 →
S252Y Uncertain significance 0.125 benign 해석 →
S285T Uncertain significance 0.097 benign 해석 →
S47F Uncertain significance 0.264 benign 해석 →
S5G Uncertain significance 0.194 benign 해석 →
S63N Uncertain significance 0.952 pathogenic 해석 →
S80L Benign/Likely benign 0.152 benign ✓ 해석 →
T103I Uncertain significance 0.097 benign 해석 →
T109I Uncertain significance 0.120 benign 해석 →
T254I Uncertain significance 0.178 benign 해석 →
V135F Uncertain significance 0.062 benign 해석 →
V135I Uncertain significance 0.069 benign 해석 →
V182M Uncertain significance 0.216 benign 해석 →
V240M Uncertain significance 0.485 ambiguous 해석 →
V242I Uncertain significance 0.092 benign 해석 →
V277I Uncertain significance 0.077 benign 해석 →
V313I Uncertain significance 0.121 benign 해석 →
V50M Uncertain significance 0.166 benign 해석 →
Y188C Uncertain significance 0.587 pathogenic 해석 →
Y217H Uncertain significance 0.979 pathogenic 해석 →
Y235C Uncertain significance 0.349 ambiguous 해석 →
Y263C Uncertain significance 0.230 benign 해석 →
Y69C Uncertain significance 0.417 ambiguous 해석 →
Y88C Uncertain significance 0.173 benign 해석 →
C86F - 0.954 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.