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

FGFR1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
85
✓ 둘 다 양성
14
⚠ CV=병원성 / AM=양성
6
⚠ CV=양성 / AM=병원성
0
— AM 미적재
395
AM ↔ ClinVar 비교 가능 변이 105건 중 99건 일치 / 6건 불일치 — 일치도 94.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A167S Pathogenic 0.727 pathogenic ✓ 해석 →
A343V Conflicting classifications of pathogeni 0.876 pathogenic 해석 →
A361P Likely pathogenic 0.129 benign ⚠ 해석 →
A608D Pathogenic 1.000 pathogenic ✓ 해석 →
A640V Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
A645V Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
A671P Likely pathogenic 0.999 pathogenic ✓ 해석 →
C101F Pathogenic 0.991 pathogenic ✓ 해석 →
C178G Likely pathogenic 0.996 pathogenic ✓ 해석 →
C178R Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C381R Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
C603* Pathogenic — 미적재 해석 →
C725Y Pathogenic 0.994 pathogenic ✓ 해석 →
D129A Conflicting classifications of pathogeni 0.404 ambiguous 해석 →
D224H Likely pathogenic 0.999 pathogenic ✓ 해석 →
D623E Pathogenic 1.000 pathogenic ✓ 해석 →
D623Y Pathogenic 0.996 pathogenic ✓ 해석 →
D641G Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
D641N Pathogenic 0.999 pathogenic ✓ 해석 →
D682N Likely pathogenic 0.995 pathogenic ✓ 해석 →
E274G Conflicting classifications of pathogeni 0.640 pathogenic 해석 →
E294K Pathogenic/Likely pathogenic 0.143 benign ⚠ 해석 →
E531G Likely pathogenic 0.999 pathogenic ✓ 해석 →
E562* Pathogenic — 미적재 해석 →
E670K Pathogenic 0.999 pathogenic ✓ 해석 →
E692G Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
E692K Likely pathogenic 0.999 pathogenic ✓ 해석 →
E708* Pathogenic — 미적재 해석 →
E715V Likely pathogenic 0.949 pathogenic ✓ 해석 →
F686S Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
F747L Likely pathogenic 0.998 pathogenic ✓ 해석 →
G226D Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
G237D Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
G237S Likely pathogenic 0.904 pathogenic ✓ 해석 →
G270D Likely pathogenic 0.869 pathogenic ✓ 해석 →
G337E Likely pathogenic 0.995 pathogenic ✓ 해석 →
G337R Pathogenic 0.992 pathogenic ✓ 해석 →
G348E Likely pathogenic 0.999 pathogenic ✓ 해석 →
G348R Pathogenic 0.999 pathogenic ✓ 해석 →
G485V Likely pathogenic 0.999 pathogenic ✓ 해석 →
G487D Pathogenic 0.999 pathogenic ✓ 해석 →
G48S Likely pathogenic 0.293 benign ⚠ 해석 →
G490R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G490R Pathogenic 1.000 pathogenic ✓ 해석 →
G490V Likely pathogenic 0.999 pathogenic ✓ 해석 →
G610D Likely pathogenic 1.000 pathogenic ✓ 해석 →
G643D Likely pathogenic 1.000 pathogenic ✓ 해석 →
G687R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G687R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G697R Pathogenic 0.998 pathogenic ✓ 해석 →
G703S Conflicting classifications of pathogeni 0.839 pathogenic 해석 →
G70R Uncertain significance 0.250 benign 해석 →
G97R Likely pathogenic 0.975 pathogenic ✓ 해석 →
G97S Pathogenic/Likely pathogenic 0.683 pathogenic ✓ 해석 →
I239T Likely pathogenic 0.929 pathogenic ✓ 해석 →
I300T Conflicting classifications of pathogeni 0.066 benign 해석 →
I639T Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
K172* Likely pathogenic — 미적재 해석 →
K278* Pathogenic — 미적재 해석 →
K517T Conflicting classifications of pathogeni 0.989 pathogenic 해석 →
K618N Likely pathogenic 0.884 pathogenic ✓ 해석 →
K655* Pathogenic — 미적재 해석 →
K656E Pathogenic 0.998 pathogenic ✓ 해석 →
L165S Pathogenic 0.998 pathogenic ✓ 해석 →
L342S Likely pathogenic 0.936 pathogenic ✓ 해석 →
L630P Pathogenic 1.000 pathogenic ✓ 해석 →
L630R Likely pathogenic 0.999 pathogenic ✓ 해석 →
L672F Likely pathogenic 0.996 pathogenic ✓ 해석 →
L713P Likely pathogenic 1.000 pathogenic ✓ 해석 →
M532T Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
M535K Pathogenic 0.998 pathogenic ✓ 해석 →
M719T Likely pathogenic 0.995 pathogenic ✓ 해석 →
M719V Likely pathogenic 0.878 pathogenic ✓ 해석 →
N264H Pathogenic 0.960 pathogenic ✓ 해석 →
N296S Likely pathogenic 0.265 benign ⚠ 해석 →
N330I Pathogenic 0.958 pathogenic ✓ 해석 →
N546K Pathogenic 0.985 pathogenic ✓ 해석 →
N628D Pathogenic 1.000 pathogenic ✓ 해석 →
N628S Pathogenic 0.999 pathogenic ✓ 해석 →
N724K Conflicting classifications of pathogeni 0.433 ambiguous 해석 →
P252R Pathogenic 0.926 pathogenic ✓ 해석 →
P28L Conflicting classifications of pathogeni 0.098 benign 해석 →
P306L Likely pathogenic 0.505 ambiguous 해석 →
P366L Conflicting classifications of pathogeni 0.182 benign 해석 →
P663R Pathogenic 0.999 pathogenic ✓ 해석 →
P722H Likely pathogenic 0.997 pathogenic ✓ 해석 →
P722S Pathogenic 0.992 pathogenic ✓ 해석 →
P745L Likely pathogenic 0.948 pathogenic ✓ 해석 →
P745S Likely pathogenic 0.989 pathogenic ✓ 해석 →
Q309* Pathogenic — 미적재 해석 →
Q411* Pathogenic — 미적재 해석 →
Q491* Likely pathogenic — 미적재 해석 →
Q52* Pathogenic — 미적재 해석 →
Q606* Likely pathogenic — 미적재 해석 →
Q62* Likely pathogenic — 미적재 해석 →
Q680* Pathogenic/Likely pathogenic — 미적재 해석 →
Q72* Pathogenic/Likely pathogenic — 미적재 해석 →
Q764H Pathogenic 0.331 benign ⚠ 해석 →
R148H Uncertain significance 0.078 benign 해석 →
R189C Conflicting classifications of pathogeni 0.252 benign 해석 →
R209C Likely pathogenic 0.966 pathogenic ✓ 해석 →
R22S Conflicting classifications of pathogeni 0.628 pathogenic 해석 →
R250P Pathogenic 0.994 pathogenic ✓ 해석 →
R250Q Pathogenic 0.969 pathogenic ✓ 해석 →
R250W Pathogenic/Likely pathogenic 0.983 pathogenic ✓ 해석 →
R254Q Likely pathogenic 0.826 pathogenic ✓ 해석 →
R254W Pathogenic/Likely pathogenic 0.969 pathogenic ✓ 해석 →
R470L Conflicting classifications of pathogeni 0.148 benign 해석 →
R609* Pathogenic — 미적재 해석 →
R622* Pathogenic/Likely pathogenic — 미적재 해석 →
R622G Pathogenic 0.993 pathogenic ✓ 해석 →
R622Q Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
R627S Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
R627T Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
R646W Likely pathogenic 0.996 pathogenic ✓ 해석 →
R661* Pathogenic/Likely pathogenic — 미적재 해석 →
R661Q Conflicting classifications of pathogeni 0.978 pathogenic 해석 →
R718C Likely pathogenic 0.942 pathogenic ✓ 해석 →
R718G Pathogenic 0.992 pathogenic ✓ 해석 →
R718H Conflicting classifications of pathogeni 0.855 pathogenic 해석 →
R744I Likely pathogenic 0.998 pathogenic ✓ 해석 →
R78C Pathogenic/Likely pathogenic 0.571 pathogenic ✓ 해석 →
R809* Conflicting classifications of pathogeni — 미적재 해석 →
S251F Pathogenic 0.975 pathogenic ✓ 해석 →
S530* Pathogenic — 미적재 해석 →
S530* Pathogenic — 미적재 해석 →
S96C Conflicting classifications of pathogeni 0.660 pathogenic 해석 →
T266I Likely pathogenic 0.942 pathogenic ✓ 해석 →
T340A Likely pathogenic 0.658 pathogenic ✓ 해석 →
T340M Conflicting classifications of pathogeni 0.399 ambiguous 해석 →
T695I Pathogenic 0.988 pathogenic ✓ 해석 →
V273M Conflicting classifications of pathogeni 0.784 pathogenic 해석 →
V279G Likely pathogenic 0.968 pathogenic ✓ 해석 →
V429E Likely pathogenic 0.634 pathogenic ✓ 해석 →
V561M Conflicting classifications of pathogeni 0.912 pathogenic 해석 →
V683G Pathogenic 0.975 pathogenic ✓ 해석 →
V688L Conflicting classifications of pathogeni 0.951 pathogenic 해석 →
V71M Likely pathogenic 0.097 benign ⚠ 해석 →
W190* Pathogenic — 미적재 해석 →
W2* Likely pathogenic — 미적재 해석 →
W2* Likely pathogenic — 미적재 해석 →
W34* Pathogenic — 미적재 해석 →
W666* Pathogenic — 미적재 해석 →
W666R Pathogenic 1.000 pathogenic ✓ 해석 →
W684* Pathogenic — 미적재 해석 →
W691C Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
W737R Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y210* Pathogenic — 미적재 해석 →
Y210* Pathogenic — 미적재 해석 →
Y228D Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y243* Pathogenic — 미적재 해석 →
Y374C Pathogenic 0.501 ambiguous 해석 →
Y572* Pathogenic — 미적재 해석 →
Y585* Pathogenic — 미적재 해석 →
Y613* Pathogenic — 미적재 해석 →
Y653C Likely pathogenic 0.989 pathogenic ✓ 해석 →
Y99C Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
A121V Uncertain significance 0.100 benign 해석 →
A152P Uncertain significance 0.072 benign 해석 →
A152S Uncertain significance 0.151 benign 해석 →
A152T Benign 0.234 benign ✓ 해석 →
A16V Uncertain significance 0.108 benign 해석 →
A21T Uncertain significance 0.278 benign 해석 →
A263T Benign/Likely benign 0.404 ambiguous 해석 →
A268T Uncertain significance 0.077 benign 해석 →
A336T Uncertain significance 0.249 benign 해석 →
A336V Uncertain significance 0.648 pathogenic 해석 →
A361D Uncertain significance 0.125 benign 해석 →
A367V Uncertain significance 0.086 benign 해석 →
A36T Uncertain significance 0.063 benign 해석 →
A413S Uncertain significance 0.239 benign 해석 →
A418S Uncertain significance 0.133 benign 해석 →
A418V Uncertain significance 0.538 ambiguous 해석 →
A520T Uncertain significance 0.840 pathogenic 해석 →
A550P Uncertain significance 0.993 pathogenic 해석 →
A550V Uncertain significance 0.539 ambiguous 해석 →
A604T Uncertain significance 0.231 benign 해석 →
A615V Uncertain significance 0.706 pathogenic 해석 →
A625T Uncertain significance 0.996 pathogenic 해석 →
A626V Uncertain significance 0.989 pathogenic 해석 →
A668T Uncertain significance 0.997 pathogenic 해석 →
A739S Uncertain significance 0.188 benign 해석 →
A74V Benign 0.073 benign ✓ 해석 →
A94E Uncertain significance 0.079 benign 해석 →
A94T Uncertain significance 0.076 benign 해석 →
C101W Uncertain significance 0.998 pathogenic 해석 →
C19S Uncertain significance 0.086 benign 해석 →
C341R Uncertain significance 1.000 pathogenic 해석 →
C389Y Uncertain significance 0.766 pathogenic 해석 →
C55F Uncertain significance 0.984 pathogenic 해석 →
C55Y Uncertain significance 0.994 pathogenic 해석 →
C603Y Uncertain significance 0.493 ambiguous 해석 →
C6F Uncertain significance 0.060 benign 해석 →
C6S Uncertain significance 0.086 benign 해석 →
C736R Uncertain significance 0.999 pathogenic 해석 →
C736W Uncertain significance 1.000 pathogenic 해석 →
C806* Uncertain significance — 미적재 해석 →
D120G Uncertain significance 0.228 benign 해석 →
D120V Uncertain significance 0.425 ambiguous 해석 →
D127E Uncertain significance 0.355 ambiguous 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.