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

SLC24A5: AM vs ClinVar 일치도

155 변이
✓ 둘 다 병원성
3
✓ 둘 다 양성
7
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
145
AM ↔ ClinVar 비교 가능 변이 10건 중 10건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A115E Pathogenic 0.875 pathogenic ✓ 해석 →
C176* Pathogenic — 미적재 해석 →
E432* Pathogenic — 미적재 해석 →
G110R Likely pathogenic 0.720 pathogenic ✓ 해석 →
G144* Pathogenic — 미적재 해석 →
G468* Uncertain significance — 미적재 해석 →
L454* Pathogenic/Likely pathogenic — 미적재 해석 →
Q261* Pathogenic — 미적재 해석 →
Q62* Pathogenic — 미적재 해석 →
R174K Pathogenic 0.614 pathogenic ✓ 해석 →
S165* Pathogenic — 미적재 해석 →
S168* Pathogenic — 미적재 해석 →
S182R Conflicting classifications of pathogeni 0.987 pathogenic 해석 →
S28* Pathogenic — 미적재 해석 →
W197* Pathogenic — 미적재 해석 →
W330* Pathogenic — 미적재 해석 →
W9* Pathogenic — 미적재 해석 →
Y485* Likely pathogenic — 미적재 해석 →
Y72* Pathogenic — 미적재 해석 →
*501W Uncertain significance — 미적재 해석 →
A10P Likely benign 0.095 benign ✓ 해석 →
A10V Uncertain significance 0.093 benign 해석 →
A115V Uncertain significance 0.662 pathogenic 해석 →
A116G Conflicting classifications of pathogeni 0.302 benign 해석 →
A146T Uncertain significance 0.184 benign 해석 →
A178V Uncertain significance 0.119 benign 해석 →
A201T Uncertain significance 0.058 benign 해석 →
A201V Uncertain significance 0.076 benign 해석 →
A233T Uncertain significance 0.058 benign 해석 →
A342V Conflicting classifications of pathogeni 0.149 benign 해석 →
A347T Uncertain significance 0.075 benign 해석 →
A391S Uncertain significance 0.147 benign 해석 →
A39S Uncertain significance 0.091 benign 해석 →
A479T Uncertain significance 0.095 benign 해석 →
C169R Uncertain significance 0.291 benign 해석 →
C471R Uncertain significance 0.952 pathogenic 해석 →
D107E Uncertain significance 0.493 ambiguous 해석 →
D252N Uncertain significance 0.070 benign 해석 →
D367N Uncertain significance 0.145 benign 해석 →
E100G Uncertain significance 0.107 benign 해석 →
E253D Uncertain significance 0.077 benign 해석 →
E432K Uncertain significance 0.072 benign 해석 →
F257L Uncertain significance 0.187 benign 해석 →
F58L Uncertain significance 0.631 pathogenic 해석 →
F80L Uncertain significance 0.394 ambiguous 해석 →
G103R Uncertain significance 0.206 benign 해석 →
G117V Uncertain significance 0.436 ambiguous 해석 →
G135A Uncertain significance 0.467 ambiguous 해석 →
G138D Uncertain significance 0.786 pathogenic 해석 →
G17R Uncertain significance 0.259 benign 해석 →
G188A Uncertain significance 0.067 benign 해석 →
G188R Uncertain significance 0.511 ambiguous 해석 →
G200R Uncertain significance 0.889 pathogenic 해석 →
G29A Uncertain significance 0.074 benign 해석 →
G394E Uncertain significance 0.566 pathogenic 해석 →
G396E Uncertain significance 0.493 ambiguous 해석 →
G405R Uncertain significance 0.889 pathogenic 해석 →
G41V Uncertain significance 0.108 benign 해석 →
G437R Uncertain significance 0.717 pathogenic 해석 →
G488A Uncertain significance 0.409 ambiguous 해석 →
G497S Uncertain significance 0.085 benign 해석 →
G57E Uncertain significance 0.231 benign 해석 →
G57R Uncertain significance 0.548 ambiguous 해석 →
G6S Uncertain significance 0.082 benign 해석 →
H24Y Uncertain significance 0.060 benign 해석 →
H283R Uncertain significance 0.077 benign 해석 →
I137T Uncertain significance 0.193 benign 해석 →
I153V Uncertain significance 0.205 benign 해석 →
I206T Uncertain significance 0.181 benign 해석 →
I280V Uncertain significance 0.062 benign 해석 →
I314T Uncertain significance 0.299 benign 해석 →
I365T Uncertain significance 0.866 pathogenic 해석 →
I385T Uncertain significance 0.130 benign 해석 →
I443M Uncertain significance 0.117 benign 해석 →
I490T Uncertain significance 0.130 benign 해석 →
I69V Uncertain significance 0.079 benign 해석 →
I97T Uncertain significance 0.138 benign 해석 →
K327R Uncertain significance 0.047 benign 해석 →
K331E Uncertain significance 0.115 benign 해석 →
K494N Uncertain significance 0.164 benign 해석 →
K4E Uncertain significance 0.066 benign 해석 →
L102F Uncertain significance 0.080 benign 해석 →
L150V Uncertain significance 0.167 benign 해석 →
L151I Uncertain significance 0.280 benign 해석 →
L159F Uncertain significance 0.114 benign 해석 →
L15F Uncertain significance 0.066 benign 해석 →
L172V Uncertain significance 0.118 benign 해석 →
L187P Uncertain significance 0.520 ambiguous 해석 →
L19M Uncertain significance 0.109 benign 해석 →
L209F Uncertain significance 0.075 benign 해석 →
L247R Uncertain significance 0.093 benign 해석 →
L452P Uncertain significance 0.608 pathogenic 해석 →
L472Q Uncertain significance 0.570 pathogenic 해석 →
L478I Uncertain significance 0.094 benign 해석 →
L481S Conflicting classifications of pathogeni 0.273 benign 해석 →
M239I Uncertain significance 0.163 benign 해석 →
M398T Uncertain significance 0.368 ambiguous 해석 →
M79T Uncertain significance 0.216 benign 해석 →
N221K Uncertain significance 0.174 benign 해석 →
P246L Uncertain significance 0.070 benign 해석 →
P299A Uncertain significance 0.442 ambiguous 해석 →
P323S Uncertain significance 0.820 pathogenic 해석 →
P366L Uncertain significance 0.720 pathogenic 해석 →
P366T Uncertain significance 0.433 ambiguous 해석 →
Q222H Uncertain significance 0.117 benign 해석 →
Q277E Likely benign 0.071 benign ✓ 해석 →
R259C Likely benign 0.081 benign ✓ 해석 →
R259H Uncertain significance 0.070 benign 해석 →
R263K Uncertain significance 0.102 benign 해석 →
R305I Uncertain significance 0.530 ambiguous 해석 →
R64C Uncertain significance 0.200 benign 해석 →
R64H Uncertain significance 0.217 benign 해석 →
R65G Uncertain significance 0.089 benign 해석 →
S168L Uncertain significance 0.131 benign 해석 →
S168T Uncertain significance 0.092 benign 해석 →
S182G Uncertain significance 0.164 benign 해석 →
S28P Uncertain significance 0.044 benign 해석 →
S294T Uncertain significance 0.082 benign 해석 →
S311Y Likely benign 0.173 benign ✓ 해석 →
S31F Uncertain significance 0.086 benign 해석 →
S341F Uncertain significance 0.869 pathogenic 해석 →
S387T Uncertain significance 0.262 benign 해석 →
S444C Uncertain significance 0.086 benign 해석 →
S474L Likely benign 0.043 benign ✓ 해석 →
S99N Uncertain significance 0.438 ambiguous 해석 →
T111A Benign 0.027 benign ✓ 해석 →
T111A Likely benign 0.027 benign ✓ 해석 →
T112I Uncertain significance 0.460 ambiguous 해석 →
T163M Uncertain significance 0.058 benign 해석 →
T166I Uncertain significance 0.079 benign 해석 →
T22S Uncertain significance 0.082 benign 해석 →
T30S Uncertain significance 0.066 benign 해석 →
T316I Uncertain significance 0.075 benign 해석 →
T368I Uncertain significance 0.505 ambiguous 해석 →
T384I Uncertain significance 0.510 ambiguous 해석 →
T442A Uncertain significance 0.075 benign 해석 →
T442N Uncertain significance 0.312 benign 해석 →
T44I Uncertain significance 0.224 benign 해석 →
T480I Uncertain significance 0.068 benign 해석 →
V130I Uncertain significance 0.091 benign 해석 →
V195I Uncertain significance 0.082 benign 해석 →
V353D Uncertain significance 0.863 pathogenic 해석 →
V353F Uncertain significance 0.414 ambiguous 해석 →
V356L Uncertain significance 0.426 ambiguous 해석 →
V390A Uncertain significance 0.232 benign 해석 →
V404M Uncertain significance 0.206 benign 해석 →
V86I Uncertain significance 0.084 benign 해석 →
W308G Conflicting classifications of pathogeni 0.533 ambiguous 해석 →
W330R Uncertain significance 0.638 pathogenic 해석 →
Y148H Uncertain significance 0.644 pathogenic 해석 →
Y207H Uncertain significance 0.618 pathogenic 해석 →
Y210F Uncertain significance 0.154 benign 해석 →
Y350H Uncertain significance 0.615 pathogenic 해석 →
Y440N Uncertain significance 0.266 benign 해석 →
S165T - 0.093 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.