Chromosome
chr22
Position
42,526,694
Alleles
G/A
Consequence
missense variant
Consensus Prediction
Likely PathogenicBased on 32 prediction algorithms
32
Pathogenic
0
Uncertain
0
Benign
VEP Scores Heatmap
Color-coded pathogenicity predictions from 32 algorithms
AlphaM
0.89
SIFT
0.02
Polyph
1.00
Polyph
0.99
CADD
28.50
REVEL
0.78
GERP
5.20
phyloP
7.80
MetaLR
0.92
MetaSV
0.88
Mutati
0.99
FATHMM
-4.20
PROVEA
-5.80
LRT
0.97
MutPre
0.85
VEST4
0.91
M_CAP
0.15
MPC
2.40
Primat
0.88
DEOGEN
0.75
BayesD
0.45
ClinPr
0.89
LIST_S
0.92
MVP
0.82
Eigen
0.78
DANN
0.98
GenoCa
0.65
fitCon
0.55
LINSIG
0.72
phastC
0.99
SiPhy
18.50
bStati
850.00
Association Statistics
Published studies and associations for this variant
| Source | |||
|---|---|---|---|
| Chronic myeloid leukemia | 1.00e-5 | 2.40 | GWAS Catalog |
| Drug response - Imatinib | 3.00e-4 | 1.80 | PharmGKB |
| Cancer susceptibility | 1.00e-3 | 1.50 | ClinVar |
Rows per page
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Related Genes
Genes associated with this variant