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

CYP2R1: AM vs ClinVar 일치도

159 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
2
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
156
AM ↔ ClinVar 비교 가능 변이 3건 중 3건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C98* Pathogenic — 미적재 해석 →
E97* Pathogenic/Likely pathogenic — 미적재 해석 →
L139* Likely pathogenic — 미적재 해석 →
L99P Pathogenic/Likely pathogenic 0.984 pathogenic ✓ 해석 →
Q245* Pathogenic — 미적재 해석 →
R131* Pathogenic — 미적재 해석 →
R138* Likely pathogenic — 미적재 해석 →
R145* Pathogenic/Likely pathogenic — 미적재 해석 →
R199* Pathogenic/Likely pathogenic — 미적재 해석 →
R424* Pathogenic — 미적재 해석 →
S188* Likely pathogenic — 미적재 해석 →
S85* Pathogenic — 미적재 해석 →
W234* Likely pathogenic — 미적재 해석 →
W234* Pathogenic — 미적재 해석 →
W5* Pathogenic — 미적재 해석 →
Y73* Pathogenic/Likely pathogenic — 미적재 해석 →
A11V Uncertain significance 0.113 benign 해석 →
A12V Uncertain significance 0.113 benign 해석 →
A221T Uncertain significance 0.425 ambiguous 해석 →
A24P Uncertain significance 0.308 benign 해석 →
A322V Uncertain significance 0.437 ambiguous 해석 →
A363P Uncertain significance 0.996 pathogenic 해석 →
A363T Uncertain significance 0.898 pathogenic 해석 →
A433G Uncertain significance 0.123 benign 해석 →
A57S Uncertain significance 0.089 benign 해석 →
C372F Uncertain significance 0.859 pathogenic 해석 →
C372S Uncertain significance 0.336 benign 해석 →
C448R Uncertain significance 0.989 pathogenic 해석 →
D354N Uncertain significance 0.105 benign 해석 →
D427G Uncertain significance 0.236 benign 해석 →
E104K Uncertain significance 0.221 benign 해석 →
E298D Uncertain significance 0.134 benign 해석 →
E411G Uncertain significance 0.117 benign 해석 →
E451K Uncertain significance 0.676 pathogenic 해석 →
E476V Uncertain significance 0.142 benign 해석 →
E60Q Uncertain significance 0.121 benign 해석 →
E8K Uncertain significance 0.137 benign 해석 →
E97G Uncertain significance 0.596 pathogenic 해석 →
F165L Uncertain significance 0.447 ambiguous 해석 →
F23L Uncertain significance 0.286 benign 해석 →
F325S Uncertain significance 0.819 pathogenic 해석 →
F39L Uncertain significance 0.924 pathogenic 해석 →
F432S Uncertain significance 0.700 pathogenic 해석 →
F441S Uncertain significance 0.985 pathogenic 해석 →
G10A Likely benign 0.083 benign ✓ 해석 →
G132E Uncertain significance 0.197 benign 해석 →
G148V Uncertain significance 0.772 pathogenic 해석 →
G26A Uncertain significance 0.071 benign 해석 →
G287S Uncertain significance 0.098 benign 해석 →
G305S Uncertain significance 0.534 ambiguous 해석 →
G38S Uncertain significance 0.141 benign 해석 →
G38V Uncertain significance 0.233 benign 해석 →
G450R Uncertain significance 0.984 pathogenic 해석 →
G82E Uncertain significance 0.984 pathogenic 해석 →
G91D Uncertain significance 0.603 pathogenic 해석 →
H243Y Uncertain significance 0.458 ambiguous 해석 →
H381R Uncertain significance 0.303 benign 해석 →
H470N Uncertain significance 0.125 benign 해석 →
H475R Uncertain significance 0.060 benign 해석 →
I169V Conflicting classifications of pathogeni 0.059 benign 해석 →
I194M Uncertain significance 0.186 benign 해석 →
I261N Uncertain significance 0.803 pathogenic 해석 →
I332T Uncertain significance 0.345 ambiguous 해석 →
I394T Uncertain significance 0.985 pathogenic 해석 →
I496M Uncertain significance 0.225 benign 해석 →
K173R Uncertain significance 0.072 benign 해석 →
K269R Uncertain significance 0.087 benign 해석 →
K412E Uncertain significance 0.168 benign 해석 →
K434R Uncertain significance 0.066 benign 해석 →
K435E Uncertain significance 0.146 benign 해석 →
K68T Uncertain significance 0.248 benign 해석 →
L124S Uncertain significance 0.959 pathogenic 해석 →
L14V Uncertain significance 0.076 benign 해석 →
L193M Uncertain significance 0.100 benign 해석 →
L193V Uncertain significance 0.104 benign 해석 →
L20P Uncertain significance 0.457 ambiguous 해석 →
L20V Uncertain significance 0.087 benign 해석 →
L272P Uncertain significance 0.364 ambiguous 해석 →
L300R Uncertain significance 0.913 pathogenic 해석 →
L453W Uncertain significance 0.885 pathogenic 해석 →
L465W Uncertain significance 0.724 pathogenic 해석 →
L466P Uncertain significance 0.977 pathogenic 해석 →
L4F Uncertain significance 0.082 benign 해석 →
L4R Uncertain significance 0.057 benign 해석 →
L55V Uncertain significance 0.193 benign 해석 →
L79I Uncertain significance 0.135 benign 해석 →
M118V Uncertain significance 0.355 ambiguous 해석 →
M1L Uncertain significance 0.088 benign 해석 →
M210V Uncertain significance 0.317 benign 해석 →
M284I Uncertain significance 0.285 benign 해석 →
M284T Uncertain significance 0.501 ambiguous 해석 →
M284V Uncertain significance 0.139 benign 해석 →
M344T Uncertain significance 0.116 benign 해석 →
M37T Uncertain significance 0.060 benign 해석 →
N166S Conflicting classifications of pathogeni 0.060 benign 해석 →
N217D Uncertain significance 0.877 pathogenic 해석 →
N230D Uncertain significance 0.715 pathogenic 해석 →
N317S Uncertain significance 0.150 benign 해석 →
P176R Uncertain significance 0.273 benign 해석 →
P359S Uncertain significance 0.476 ambiguous 해석 →
P36L Uncertain significance 0.218 benign 해석 →
P376S Uncertain significance 0.888 pathogenic 해석 →
P41A Uncertain significance 0.152 benign 해석 →
P41T Uncertain significance 0.296 benign 해석 →
P479A Uncertain significance 0.127 benign 해석 →
P479Q Uncertain significance 0.301 benign 해석 →
P493R Uncertain significance 0.139 benign 해석 →
P493T Uncertain significance 0.145 benign 해석 →
P62S Uncertain significance 0.673 pathogenic 해석 →
Q102H Uncertain significance 0.321 benign 해석 →
Q286H Uncertain significance 0.105 benign 해석 →
Q335R Uncertain significance 0.067 benign 해석 →
Q337H Uncertain significance 0.308 benign 해석 →
R109G Uncertain significance 0.993 pathogenic 해석 →
R131Q Uncertain significance 0.089 benign 해석 →
R248S Uncertain significance 0.254 benign 해석 →
R28C Uncertain significance 0.218 benign 해석 →
R320W Uncertain significance 0.400 ambiguous 해석 →
R34W Uncertain significance 0.206 benign 해석 →
R390C Uncertain significance 0.120 benign 해석 →
R424Q Uncertain significance 0.452 ambiguous 해석 →
R445G Uncertain significance 0.713 pathogenic 해석 →
R455Q Uncertain significance 0.160 benign 해석 →
R455W Uncertain significance 0.268 benign 해석 →
R468S Uncertain significance 0.331 benign 해석 →
R500* Uncertain significance — 미적재 해석 →
R67G Uncertain significance 0.214 benign 해석 →
R67K Uncertain significance 0.090 benign 해석 →
R6T Uncertain significance 0.118 benign 해석 →
S156C Uncertain significance 0.090 benign 해석 →
S384C Uncertain significance 0.154 benign 해석 →
S393F Uncertain significance 0.125 benign 해석 →
S78N Uncertain significance 0.781 pathogenic 해석 →
S85P Uncertain significance 0.085 benign 해석 →
T184M Uncertain significance 0.298 benign 해석 →
T383A Likely benign 0.107 benign ✓ 해석 →
T383I Uncertain significance 0.771 pathogenic 해석 →
T399R Uncertain significance 0.752 pathogenic 해석 →
T402I Uncertain significance 0.489 ambiguous 해석 →
V141I Uncertain significance 0.104 benign 해석 →
V187I Uncertain significance 0.126 benign 해석 →
V318G Uncertain significance 0.411 ambiguous 해석 →
V389E Uncertain significance 0.955 pathogenic 해석 →
V400L Uncertain significance 0.525 ambiguous 해석 →
V478L Uncertain significance 0.102 benign 해석 →
W2R Conflicting classifications of pathogeni 0.207 benign 해석 →
W352R Uncertain significance 0.634 pathogenic 해석 →
W5G Uncertain significance 0.063 benign 해석 →
W5S Uncertain significance 0.094 benign 해석 →
Y149H Uncertain significance 0.226 benign 해석 →
Y172C Uncertain significance 0.087 benign 해석 →
Y405F Uncertain significance 0.151 benign 해석 →
Y431D Uncertain significance 0.102 benign 해석 →
Y431H Uncertain significance 0.075 benign 해석 →
Y92C Uncertain significance 0.314 benign 해석 →
I76F - 0.727 pathogenic 해석 →
Q333H - 0.961 pathogenic 해석 →
W2* - — 미적재 해석 →
Y73C - 0.269 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.