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

ASS1: AM vs ClinVar 일치도

302 변이
✓ 둘 다 병원성
61
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
5
⚠ CV=양성 / AM=병원성
0
— AM 미적재
231
AM ↔ ClinVar 비교 가능 변이 71건 중 66건 일치 / 5건 불일치 — 일치도 93%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A118T Pathogenic 0.939 pathogenic ✓ 해석 →
A164P Pathogenic 0.994 pathogenic ✓ 해석 →
A202E Conflicting classifications of pathogeni 0.907 pathogenic 해석 →
A216D Conflicting classifications of pathogeni 0.856 pathogenic 해석 →
A258V Likely pathogenic 0.869 pathogenic ✓ 해석 →
A299D Pathogenic 0.817 pathogenic ✓ 해석 →
C19* Pathogenic — 미적재 해석 →
C337* Pathogenic — 미적재 해석 →
C97* Likely pathogenic — 미적재 해석 →
D124E Likely pathogenic 0.999 pathogenic ✓ 해석 →
D124N Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
E162* Likely pathogenic — 미적재 해석 →
E191* Likely pathogenic — 미적재 해석 →
E191K Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
E191Q Pathogenic/Likely pathogenic 0.988 pathogenic ✓ 해석 →
E270Q Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
E283D Likely pathogenic 0.933 pathogenic ✓ 해석 →
E283K Pathogenic/Likely pathogenic 0.986 pathogenic ✓ 해석 →
E298G Conflicting classifications of pathogeni 0.912 pathogenic 해석 →
E298K Likely pathogenic 0.950 pathogenic ✓ 해석 →
E346* Likely pathogenic — 미적재 해석 →
E373* Pathogenic/Likely pathogenic — 미적재 해석 →
E67* Pathogenic — 미적재 해석 →
F391L Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
F72I Likely pathogenic 0.835 pathogenic ✓ 해석 →
F72L Conflicting classifications of pathogeni 0.988 pathogenic 해석 →
G117D Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G117S Pathogenic 0.981 pathogenic ✓ 해석 →
G14S Pathogenic/Likely pathogenic 0.970 pathogenic ✓ 해석 →
G156D Likely pathogenic 0.960 pathogenic ✓ 해석 →
G193R Conflicting classifications of pathogeni 0.977 pathogenic 해석 →
G230A Likely pathogenic 0.872 pathogenic ✓ 해석 →
G275* Pathogenic — 미적재 해석 →
G324S Pathogenic/Likely pathogenic 0.937 pathogenic ✓ 해석 →
G324V Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
G362V Pathogenic 0.597 pathogenic ✓ 해석 →
G390R Pathogenic 0.969 pathogenic ✓ 해석 →
G390R Pathogenic/Likely pathogenic 0.969 pathogenic ✓ 해석 →
G39R Conflicting classifications of pathogeni 0.974 pathogenic 해석 →
G90D Likely pathogenic 0.997 pathogenic ✓ 해석 →
H294Y Likely pathogenic 0.742 pathogenic ✓ 해석 →
I297T Likely pathogenic 0.395 ambiguous 해석 →
K155* Pathogenic — 미적재 해석 →
K165* Likely pathogenic — 미적재 해석 →
K277R Pathogenic 0.830 pathogenic ✓ 해석 →
K310Q Likely pathogenic 0.818 pathogenic ✓ 해석 →
K310R Pathogenic/Likely pathogenic 0.164 benign ⚠ 해석 →
K340* Likely pathogenic — 미적재 해석 →
K348* Likely pathogenic — 미적재 해석 →
L160P Likely pathogenic 0.998 pathogenic ✓ 해석 →
L185F Likely pathogenic 0.556 ambiguous 해석 →
L195P Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
L295* Likely pathogenic — 미적재 해석 →
L315* Pathogenic — 미적재 해석 →
L82P Pathogenic/Likely pathogenic 0.860 pathogenic ✓ 해석 →
L88I Conflicting classifications of pathogeni 0.597 pathogenic 해석 →
M147T Pathogenic 0.455 ambiguous 해석 →
M1I Likely pathogenic 0.354 ambiguous 해석 →
M1V Likely pathogenic 0.101 benign ⚠ 해석 →
M302V Conflicting classifications of pathogeni 0.138 benign 해석 →
M377T Likely pathogenic 0.984 pathogenic ✓ 해석 →
N184K Likely pathogenic 0.999 pathogenic ✓ 해석 →
P144R Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
P285Q Likely pathogenic 0.969 pathogenic ✓ 해석 →
P96T Likely pathogenic 0.924 pathogenic ✓ 해석 →
Q125* Pathogenic — 미적재 해석 →
Q138* Pathogenic/Likely pathogenic — 미적재 해석 →
Q201* Pathogenic — 미적재 해석 →
Q211* Pathogenic/Likely pathogenic — 미적재 해석 →
Q311* Pathogenic — 미적재 해석 →
Q350* Pathogenic — 미적재 해석 →
Q357* Pathogenic/Likely pathogenic — 미적재 해석 →
Q380* Pathogenic — 미적재 해석 →
Q40L Likely pathogenic 0.940 pathogenic ✓ 해석 →
R108L Conflicting classifications of pathogeni 0.121 benign 해석 →
R127G Likely pathogenic 0.993 pathogenic ✓ 해석 →
R127L Pathogenic/Likely pathogenic 0.984 pathogenic ✓ 해석 →
R127Q Pathogenic 0.986 pathogenic ✓ 해석 →
R127W Pathogenic/Likely pathogenic 0.980 pathogenic ✓ 해석 →
R157C Pathogenic 0.990 pathogenic ✓ 해석 →
R157H Conflicting classifications of pathogeni 0.981 pathogenic 해석 →
R265C Pathogenic/Likely pathogenic 0.550 ambiguous 해석 →
R265H Pathogenic/Likely pathogenic 0.700 pathogenic ✓ 해석 →
R265L Conflicting classifications of pathogeni 0.902 pathogenic 해석 →
R272C Pathogenic 0.979 pathogenic ✓ 해석 →
R272H Pathogenic 0.982 pathogenic ✓ 해석 →
R272L Likely pathogenic 0.993 pathogenic ✓ 해석 →
R279* Pathogenic/Likely pathogenic — 미적재 해석 →
R279Q Pathogenic/Likely pathogenic 0.979 pathogenic ✓ 해석 →
R304Q Likely pathogenic 0.486 ambiguous 해석 →
R304W Pathogenic 0.760 pathogenic ✓ 해석 →
R307C Conflicting classifications of pathogeni 0.521 ambiguous 해석 →
R307H Conflicting classifications of pathogeni 0.419 ambiguous 해석 →
R307S Pathogenic/Likely pathogenic 0.966 pathogenic ✓ 해석 →
R335C Conflicting classifications of pathogeni 0.283 benign 해석 →
R335H Likely pathogenic 0.232 benign ⚠ 해석 →
R344* Pathogenic — 미적재 해석 →
R363G Conflicting classifications of pathogeni 0.982 pathogenic 해석 →
R363L Likely pathogenic 0.971 pathogenic ✓ 해석 →
R363Q Pathogenic/Likely pathogenic 0.820 pathogenic ✓ 해석 →
R363W Pathogenic/Likely pathogenic 0.889 pathogenic ✓ 해석 →
R86C Pathogenic 0.528 ambiguous 해석 →
R86H Pathogenic/Likely pathogenic 0.479 ambiguous 해석 →
S134* Likely pathogenic — 미적재 해석 →
S180I Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
S180N Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
S18L Pathogenic/Likely pathogenic 0.955 pathogenic ✓ 해석 →
S396T Likely pathogenic 0.409 ambiguous 해석 →
T119I Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
T284I Likely pathogenic 0.946 pathogenic ✓ 해석 →
T389I Conflicting classifications of pathogeni 0.371 ambiguous 해석 →
T91P Pathogenic 0.936 pathogenic ✓ 해석 →
V263E Likely pathogenic 0.977 pathogenic ✓ 해석 →
V263M Pathogenic 0.705 pathogenic ✓ 해석 →
V269M Conflicting classifications of pathogeni 0.907 pathogenic 해석 →
V306G Likely pathogenic 0.733 pathogenic ✓ 해석 →
V31G Likely pathogenic 0.903 pathogenic ✓ 해석 →
V69A Conflicting classifications of pathogeni 0.476 ambiguous 해석 →
V7M Conflicting classifications of pathogeni 0.889 pathogenic 해석 →
W179* Pathogenic/Likely pathogenic — 미적재 해석 →
W179* Pathogenic — 미적재 해석 →
W179R Pathogenic 0.998 pathogenic ✓ 해석 →
W23* Likely pathogenic — 미적재 해석 →
W74* Pathogenic — 미적재 해석 →
Y113* Pathogenic — 미적재 해석 →
Y163* Pathogenic — 미적재 해석 →
Y163* Pathogenic — 미적재 해석 →
Y207* Pathogenic — 미적재 해석 →
Y253* Likely pathogenic — 미적재 해석 →
Y282* Pathogenic/Likely pathogenic — 미적재 해석 →
Y291S Likely pathogenic 0.284 benign ⚠ 해석 →
Y34* Pathogenic — 미적재 해석 →
Y359D Pathogenic 0.435 ambiguous 해석 →
Y359H Likely pathogenic 0.176 benign ⚠ 해석 →
A106G Uncertain significance 0.398 ambiguous 해석 →
A10P Uncertain significance 0.977 pathogenic 해석 →
A136D Uncertain significance 0.149 benign 해석 →
A136V Uncertain significance 0.131 benign 해석 →
A164T Uncertain significance 0.730 pathogenic 해석 →
A192T Uncertain significance 0.901 pathogenic 해석 →
A202V Uncertain significance 0.427 ambiguous 해석 →
A216T Uncertain significance 0.119 benign 해석 →
A258E Uncertain significance 0.991 pathogenic 해석 →
A258T Uncertain significance 0.770 pathogenic 해석 →
A299F Uncertain significance 0.657 pathogenic 해석 →
A318P Uncertain significance 0.971 pathogenic 해석 →
A339T Conflicting classifications of pathogeni 0.075 benign 해석 →
A33P Uncertain significance 0.918 pathogenic 해석 →
A388S Uncertain significance 0.249 benign 해석 →
A47V Uncertain significance 0.312 benign 해석 →
A51T Uncertain significance 0.951 pathogenic 해석 →
A56D Uncertain significance 0.992 pathogenic 해석 →
A56T Uncertain significance 0.660 pathogenic 해석 →
A81T Uncertain significance 0.257 benign 해석 →
A99T Uncertain significance 0.226 benign 해석 →
C331R Uncertain significance 0.889 pathogenic 해석 →
C337G Uncertain significance 0.458 ambiguous 해석 →
D124H Uncertain significance 0.999 pathogenic 해석 →
D124V Uncertain significance 0.999 pathogenic 해석 →
D124Y Uncertain significance 0.995 pathogenic 해석 →
D159N Uncertain significance 0.398 ambiguous 해석 →
D16G Uncertain significance 0.998 pathogenic 해석 →
D16H Uncertain significance 0.998 pathogenic 해석 →
D182N Uncertain significance 0.997 pathogenic 해석 →
D240N Uncertain significance 0.085 benign 해석 →
D30E Uncertain significance 0.110 benign 해석 →
E191A Uncertain significance 0.994 pathogenic 해석 →
E196K Uncertain significance 0.989 pathogenic 해석 →
E224K Uncertain significance 0.200 benign 해석 →
E226K Uncertain significance 0.178 benign 해석 →
E256K Benign/Likely benign 0.094 benign ✓ 해석 →
E305V Uncertain significance 0.902 pathogenic 해석 →
E319K Uncertain significance 0.736 pathogenic 해석 →
E401K Uncertain significance 0.978 pathogenic 해석 →
E42K Uncertain significance 0.861 pathogenic 해석 →
E45K Uncertain significance 0.153 benign 해석 →
E67K Uncertain significance 0.358 ambiguous 해석 →
E84K Uncertain significance 0.978 pathogenic 해석 →
F128S Uncertain significance 0.996 pathogenic 해석 →
F44L Uncertain significance 0.931 pathogenic 해석 →
G110R Uncertain significance 0.231 benign 해석 →
G168R Uncertain significance 0.221 benign 해석 →
G193A Uncertain significance 0.821 pathogenic 해석 →
G230V Uncertain significance 0.989 pathogenic 해석 →
G264D Uncertain significance 0.996 pathogenic 해석 →
G264S Uncertain significance 0.944 pathogenic 해석 →
G264V Uncertain significance 0.995 pathogenic 해석 →
G275V Uncertain significance 0.991 pathogenic 해석 →
G280A Uncertain significance 0.977 pathogenic 해석 →
G280V Uncertain significance 0.993 pathogenic 해석 →
G287S Uncertain significance 0.441 ambiguous 해석 →
G356V Uncertain significance 0.984 pathogenic 해석 →
G362S Uncertain significance 0.113 benign 해석 →
G39S Uncertain significance 0.794 pathogenic 해석 →
G5A Uncertain significance 0.173 benign 해석 →
G90S Uncertain significance 0.968 pathogenic 해석 →
H167R Uncertain significance 0.114 benign 해석 →
H244Y Uncertain significance 0.072 benign 해석 →
H292R Uncertain significance 0.112 benign 해석 →
I105S Uncertain significance 0.813 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.