A28D (p.Ala28Asp) variant of ABL1 (Tyrosine-protein kinase ABL1)
A28D (p.Ala28Asp) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- TOPMed rs761750284
- gnomAD rs761750284
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.38
- MetaLR 0.16
- MetaSVM -0.92
- CADD 23.80
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available