A28V (p.Ala28Val) variant of ABL1 (Tyrosine-protein kinase ABL1)
A28V (p.Ala28Val) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- cosmic curated COSV59343
- TOPMed rs761750284
- gnomAD rs761750284
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.31
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available