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

IRF6: AM vs ClinVar 일치도

210 변이
✓ 둘 다 병원성
56
✓ 둘 다 양성
8
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
1
— AM 미적재
143
AM ↔ ClinVar 비교 가능 변이 67건 중 64건 일치 / 3건 불일치 — 일치도 95.5%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A2V Pathogenic 0.472 ambiguous 해석 →
A310P Likely pathogenic 0.992 pathogenic ✓ 해석 →
A59S Likely pathogenic 0.710 pathogenic ✓ 해석 →
A59V Pathogenic 0.985 pathogenic ✓ 해석 →
A61P Pathogenic 1.000 pathogenic ✓ 해석 →
A61T Likely pathogenic 1.000 pathogenic ✓ 해석 →
C186* Pathogenic — 미적재 해석 →
C317Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C374Y Likely pathogenic 0.997 pathogenic ✓ 해석 →
D98H Likely pathogenic 0.999 pathogenic ✓ 해석 →
E144* Pathogenic — 미적재 해석 →
E349* Pathogenic — 미적재 해석 →
E404K Pathogenic/Likely pathogenic 0.934 pathogenic ✓ 해석 →
E52* Pathogenic — 미적재 해석 →
E53G Likely pathogenic 0.637 pathogenic ✓ 해석 →
E92* Pathogenic — 미적재 해석 →
E92K Pathogenic 0.999 pathogenic ✓ 해석 →
F266S Pathogenic 0.997 pathogenic ✓ 해석 →
F276S Likely pathogenic 1.000 pathogenic ✓ 해석 →
F351L Likely pathogenic 0.999 pathogenic ✓ 해석 →
F351S Pathogenic 0.999 pathogenic ✓ 해석 →
F57L Likely pathogenic 1.000 pathogenic ✓ 해석 →
G254A Likely pathogenic 0.698 pathogenic ✓ 해석 →
G254R Likely pathogenic 0.972 pathogenic ✓ 해석 →
G325W Likely pathogenic 0.998 pathogenic ✓ 해석 →
G65E Likely pathogenic 0.999 pathogenic ✓ 해석 →
I110T Likely pathogenic 0.987 pathogenic ✓ 해석 →
I38T Pathogenic 1.000 pathogenic ✓ 해석 →
I423S Pathogenic 0.998 pathogenic ✓ 해석 →
K34E Likely pathogenic 0.585 pathogenic ✓ 해석 →
K34T Likely pathogenic 0.578 pathogenic ✓ 해석 →
K78E Likely pathogenic 0.999 pathogenic ✓ 해석 →
K89* Pathogenic — 미적재 해석 →
L22P Pathogenic 0.873 pathogenic ✓ 해석 →
L29R Likely pathogenic 0.664 pathogenic ✓ 해석 →
L304P Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
L316P Pathogenic 1.000 pathogenic ✓ 해석 →
L439P Pathogenic 0.998 pathogenic ✓ 해석 →
L87F Pathogenic 0.996 pathogenic ✓ 해석 →
M1K Pathogenic 0.885 pathogenic ✓ 해석 →
N88H Likely pathogenic 0.991 pathogenic ✓ 해석 →
N88S Pathogenic 0.967 pathogenic ✓ 해석 →
P380S Pathogenic 0.992 pathogenic ✓ 해석 →
P396S Pathogenic 0.995 pathogenic ✓ 해석 →
P39H Likely pathogenic 0.998 pathogenic ✓ 해석 →
P76S Pathogenic 0.989 pathogenic ✓ 해석 →
Q118* Pathogenic — 미적재 해석 →
Q152* Pathogenic/Likely pathogenic — 미적재 해석 →
Q160* Pathogenic — 미적재 해석 →
Q208* Pathogenic — 미적재 해석 →
Q231* Pathogenic — 미적재 해석 →
Q287* Pathogenic/Likely pathogenic — 미적재 해석 →
Q318* Pathogenic — 미적재 해석 →
Q393* Likely pathogenic — 미적재 해석 →
Q438* Likely pathogenic — 미적재 해석 →
Q49* Pathogenic — 미적재 해석 →
Q68* Likely pathogenic — 미적재 해석 →
R250* Pathogenic — 미적재 해석 →
R250Q Pathogenic/Likely pathogenic 0.944 pathogenic ✓ 해석 →
R339I Pathogenic 0.999 pathogenic ✓ 해석 →
R400Q Pathogenic 0.210 benign ⚠ 해석 →
R400W Pathogenic 0.808 pathogenic ✓ 해석 →
R412* Pathogenic — 미적재 해석 →
R45Q Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
R6C Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
R6S Likely pathogenic 0.996 pathogenic ✓ 해석 →
R84C Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
R84H Pathogenic 1.000 pathogenic ✓ 해석 →
R84L Pathogenic 1.000 pathogenic ✓ 해석 →
R9Q Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
R9W Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
S122* Pathogenic — 미적재 해석 →
S220F Likely pathogenic 0.868 pathogenic ✓ 해석 →
S330* Pathogenic — 미적재 해석 →
S424L Likely pathogenic 0.990 pathogenic ✓ 해석 →
S90G Likely pathogenic 0.984 pathogenic ✓ 해석 →
S90T Likely pathogenic 0.974 pathogenic ✓ 해석 →
T100A Pathogenic 0.920 pathogenic ✓ 해석 →
V297I Likely pathogenic 0.313 benign ⚠ 해석 →
V321M Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
V394D Likely pathogenic 0.998 pathogenic ✓ 해석 →
W192* Pathogenic — 미적재 해석 →
W192* Pathogenic — 미적재 해석 →
W379* Pathogenic — 미적재 해석 →
W40* Pathogenic — 미적재 해석 →
W40C Pathogenic 1.000 pathogenic ✓ 해석 →
W60* Pathogenic — 미적재 해석 →
W60* Pathogenic — 미적재 해석 →
W60C Likely pathogenic 1.000 pathogenic ✓ 해석 →
W79* Pathogenic — 미적재 해석 →
W79R Pathogenic 1.000 pathogenic ✓ 해석 →
Y23* Pathogenic — 미적재 해석 →
Y232* Likely pathogenic — 미적재 해석 →
Y237* Pathogenic — 미적재 해석 →
Y440* Likely pathogenic — 미적재 해석 →
A16V Uncertain significance 0.608 pathogenic 해석 →
A2T Uncertain significance 0.208 benign 해석 →
A328T Uncertain significance 0.452 ambiguous 해석 →
A463V Uncertain significance 0.070 benign 해석 →
A81D Uncertain significance 0.999 pathogenic 해석 →
C249R Uncertain significance 1.000 pathogenic 해석 →
C347F Uncertain significance 0.792 pathogenic 해석 →
C347Y Uncertain significance 0.836 pathogenic 해석 →
D135G Uncertain significance 0.196 benign 해석 →
D140G Uncertain significance 0.134 benign 해석 →
D142G Uncertain significance 0.100 benign 해석 →
D145E Uncertain significance 0.061 benign 해석 →
D148G Benign 0.095 benign ✓ 해석 →
D225N Uncertain significance 0.946 pathogenic 해석 →
D354N Uncertain significance 0.113 benign 해석 →
D415E Uncertain significance 0.443 ambiguous 해석 →
D427Y not provided 0.976 pathogenic 해석 →
E136K Uncertain significance 0.292 benign 해석 →
E149K Uncertain significance 0.143 benign 해석 →
E189K Uncertain significance 0.189 benign 해석 →
E196Q Uncertain significance 0.182 benign 해석 →
E199K Uncertain significance 0.303 benign 해석 →
E201G Uncertain significance 0.177 benign 해석 →
E215K Uncertain significance 0.730 pathogenic 해석 →
E236A Uncertain significance 0.129 benign 해석 →
E236G Uncertain significance 0.188 benign 해석 →
E53D Uncertain significance 0.279 benign 해석 →
F252V Uncertain significance 0.949 pathogenic 해석 →
F351L Uncertain significance 0.999 pathogenic 해석 →
F369L Uncertain significance 0.983 pathogenic 해석 →
F36Y Uncertain significance 0.985 pathogenic 해석 →
F93L Uncertain significance 1.000 pathogenic 해석 →
G121V Benign 0.105 benign ✓ 해석 →
G127R Uncertain significance 0.845 pathogenic 해석 →
G21D Uncertain significance 0.610 pathogenic 해석 →
G278S Uncertain significance 0.079 benign 해석 →
G301V Uncertain significance 1.000 pathogenic 해석 →
I228T Uncertain significance 0.983 pathogenic 해석 →
I303N Uncertain significance 0.988 pathogenic 해석 →
I311T Uncertain significance 0.989 pathogenic 해석 →
I56V Uncertain significance 0.311 benign 해석 →
K101E Uncertain significance 0.993 pathogenic 해석 →
K109N Uncertain significance 1.000 pathogenic 해석 →
K109T not provided 0.999 pathogenic 해석 →
K89N Uncertain significance 1.000 pathogenic 해석 →
L14M Uncertain significance 0.905 pathogenic 해석 →
L14R Uncertain significance 0.999 pathogenic 해석 →
L289P Uncertain significance 0.893 pathogenic 해석 →
L336M Uncertain significance 0.160 benign 해석 →
L336R Uncertain significance 0.467 ambiguous 해석 →
L352R Uncertain significance 0.992 pathogenic 해석 →
L389P Uncertain significance 1.000 pathogenic 해석 →
L391F Benign 0.299 benign ✓ 해석 →
L436P Uncertain significance 1.000 pathogenic 해석 →
L87P Uncertain significance 1.000 pathogenic 해석 →
M105T Uncertain significance 0.772 pathogenic 해석 →
M105V Uncertain significance 0.117 benign 해석 →
M200V Uncertain significance 0.080 benign 해석 →
M259I Likely benign 0.433 ambiguous 해석 →
M96I Uncertain significance 0.137 benign 해석 →
N335D Uncertain significance 0.841 pathogenic 해석 →
N335K Uncertain significance 0.903 pathogenic 해석 →
N431T Uncertain significance 0.241 benign 해석 →
N88K Uncertain significance 0.999 pathogenic 해석 →
N88K Uncertain significance 0.999 pathogenic 해석 →
N94S Uncertain significance 0.066 benign 해석 →
P126S Uncertain significance 0.272 benign 해석 →
P12H Uncertain significance 0.977 pathogenic 해석 →
P164A Benign 0.131 benign ✓ 해석 →
P172S Uncertain significance 0.097 benign 해석 →
P203S Uncertain significance 0.087 benign 해석 →
P203T Uncertain significance 0.078 benign 해석 →
P222L Uncertain significance 0.973 pathogenic 해석 →
P24S Likely benign 0.585 pathogenic ⚠ 해석 →
P454S Uncertain significance 0.067 benign 해석 →
P462L Uncertain significance 0.080 benign 해석 →
Q273H Uncertain significance 0.930 pathogenic 해석 →
Q366E Uncertain significance 0.111 benign 해석 →
Q438L not provided 0.299 benign 해석 →
Q450H Uncertain significance 0.108 benign 해석 →
Q453P Uncertain significance 0.056 benign 해석 →
Q467R Uncertain significance 0.093 benign 해석 →
R339G Uncertain significance 0.998 pathogenic 해석 →
R387K Uncertain significance 0.146 benign 해석 →
R420H Conflicting classifications of pathogeni 0.377 ambiguous 해석 →
R441C Uncertain significance 0.131 benign 해석 →
R84G not provided 1.000 pathogenic 해석 →
R84P not provided 1.000 pathogenic 해석 →
R91S Uncertain significance 0.989 pathogenic 해석 →
S153A Benign 0.077 benign ✓ 해석 →
S153L Uncertain significance 0.090 benign 해석 →
S187R Uncertain significance 0.466 ambiguous 해석 →
S212N Benign 0.136 benign ✓ 해석 →
S416N Uncertain significance 0.597 pathogenic 해석 →
S424A Uncertain significance 0.861 pathogenic 해석 →
T100S Uncertain significance 0.872 pathogenic 해석 →
T240S Uncertain significance 0.087 benign 해석 →
T291A Uncertain significance 0.932 pathogenic 해석 →
V103A Uncertain significance 0.806 pathogenic 해석 →
V18M Uncertain significance 0.997 pathogenic 해석 →
V243L Uncertain significance 0.880 pathogenic 해석 →
V269I Uncertain significance 0.068 benign 해석 →
V274I Benign 0.085 benign ✓ 해석 →
V332I Benign 0.070 benign ✓ 해석 →
V392G Uncertain significance 0.969 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.