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

CASS4: AM vs ClinVar 일치도

109 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
15
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
94
AM ↔ ClinVar 비교 가능 변이 15건 중 15건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A10V Uncertain significance 0.084 benign 해석 →
A120V Likely benign 0.054 benign ✓ 해석 →
A16D Uncertain significance 0.986 pathogenic 해석 →
A264V Likely benign 0.076 benign ✓ 해석 →
A271T Uncertain significance 0.068 benign 해석 →
A377T Likely benign 0.063 benign ✓ 해석 →
A377V Uncertain significance 0.075 benign 해석 →
A456T Uncertain significance 0.117 benign 해석 →
A682V Uncertain significance 0.598 pathogenic 해석 →
A689T Uncertain significance 0.085 benign 해석 →
A763T Uncertain significance 0.220 benign 해석 →
A771T Uncertain significance 0.101 benign 해석 →
D25E Uncertain significance 0.336 benign 해석 →
D404E Uncertain significance 0.138 benign 해석 →
D436N Uncertain significance 0.116 benign 해석 →
D438E Uncertain significance 0.104 benign 해석 →
D470E Uncertain significance 0.110 benign 해석 →
D558E Uncertain significance 0.279 benign 해석 →
D77N Uncertain significance 0.087 benign 해석 →
E266A Uncertain significance 0.077 benign 해석 →
E29K Uncertain significance 0.876 pathogenic 해석 →
E620K Uncertain significance 0.085 benign 해석 →
E723Q Uncertain significance 0.324 benign 해석 →
F133L Likely benign 0.400 ambiguous 해석 →
G251R Uncertain significance 0.104 benign 해석 →
G50R Uncertain significance 0.908 pathogenic 해석 →
H44D Uncertain significance 0.069 benign 해석 →
I221T Likely benign 0.089 benign ✓ 해석 →
I221V Uncertain significance 0.076 benign 해석 →
I40V Uncertain significance 0.127 benign 해석 →
I6V Likely benign 0.071 benign ✓ 해석 →
K302R Uncertain significance 0.086 benign 해석 →
K773R Uncertain significance 0.077 benign 해석 →
L460P Uncertain significance 0.436 ambiguous 해석 →
L656F Uncertain significance 0.071 benign 해석 →
M445I Uncertain significance 0.279 benign 해석 →
M568R Uncertain significance 0.241 benign 해석 →
M711T Likely benign 0.071 benign ✓ 해석 →
M711V Uncertain significance 0.116 benign 해석 →
N281S Likely benign 0.059 benign ✓ 해석 →
N295Y Uncertain significance 0.064 benign 해석 →
P104R Uncertain significance 0.085 benign 해석 →
P167L Uncertain significance 0.103 benign 해석 →
P170A Uncertain significance 0.074 benign 해석 →
P209R Uncertain significance 0.083 benign 해석 →
P237T Uncertain significance 0.102 benign 해석 →
P353A Uncertain significance 0.440 ambiguous 해석 →
P391A Uncertain significance 0.063 benign 해석 →
P395R Uncertain significance 0.089 benign 해석 →
P615S Uncertain significance 0.078 benign 해석 →
P82Q Uncertain significance 0.096 benign 해석 →
Q293R Uncertain significance 0.079 benign 해석 →
Q301K Uncertain significance 0.080 benign 해석 →
Q342K Uncertain significance 0.087 benign 해석 →
Q705R Uncertain significance 0.093 benign 해석 →
R105C Likely benign 0.074 benign ✓ 해석 →
R268K Uncertain significance 0.078 benign 해석 →
R318G Uncertain significance 0.077 benign 해석 →
R469Q Uncertain significance 0.095 benign 해석 →
R491K Benign 0.084 benign ✓ 해석 →
R528C Uncertain significance 0.084 benign 해석 →
R528G Uncertain significance 0.081 benign 해석 →
R528H Uncertain significance 0.061 benign 해석 →
R528L Conflicting classifications of pathogeni 0.114 benign 해석 →
R567Q Uncertain significance 0.243 benign 해석 →
R567W Uncertain significance 0.523 ambiguous 해석 →
R590Q Likely benign 0.058 benign ✓ 해석 →
R590W Uncertain significance 0.098 benign 해석 →
R632K Uncertain significance 0.071 benign 해석 →
R645S Uncertain significance 0.136 benign 해석 →
R67H Uncertain significance 0.741 pathogenic 해석 →
R730C Uncertain significance 0.184 benign 해석 →
R730G Uncertain significance 0.279 benign 해석 →
R779W Uncertain significance 0.131 benign 해석 →
S118N Uncertain significance 0.143 benign 해석 →
S200T Uncertain significance 0.084 benign 해석 →
S276G Likely benign 0.064 benign ✓ 해석 →
S277P Uncertain significance 0.073 benign 해석 →
S357L Uncertain significance 0.072 benign 해석 →
S358G Uncertain significance 0.062 benign 해석 →
S360C Uncertain significance 0.076 benign 해석 →
S411C Likely benign 0.201 benign ✓ 해석 →
S412A Uncertain significance 0.110 benign 해석 →
S425F Uncertain significance 0.081 benign 해석 →
S426L Benign 0.067 benign ✓ 해석 →
S510N Uncertain significance 0.093 benign 해석 →
S637T Uncertain significance 0.072 benign 해석 →
S697R Uncertain significance 0.164 benign 해석 →
S742C Uncertain significance 0.091 benign 해석 →
T102P Uncertain significance 0.061 benign 해석 →
T246I Uncertain significance 0.117 benign 해석 →
T258M Uncertain significance 0.080 benign 해석 →
T278A Uncertain significance 0.059 benign 해석 →
T356M Likely benign 0.067 benign ✓ 해석 →
T388I Uncertain significance 0.099 benign 해석 →
T626N Uncertain significance 0.080 benign 해석 →
T704A Uncertain significance 0.078 benign 해석 →
T72M Uncertain significance 0.089 benign 해석 →
V184M Uncertain significance 0.078 benign 해석 →
V255I Likely benign 0.071 benign ✓ 해석 →
V340L Uncertain significance 0.160 benign 해석 →
V452I Uncertain significance 0.107 benign 해석 →
V580I Uncertain significance 0.082 benign 해석 →
V74F Uncertain significance 0.105 benign 해석 →
Y471H Uncertain significance 0.091 benign 해석 →
Y98C Uncertain significance 0.098 benign 해석 →
E595* - — 미적재 해석 →
R163Q - 0.073 benign 해석 →
R339Q - 0.094 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.