A28S (p.Ala28Ser) variant of ABL1 (Tyrosine-protein kinase ABL1)
A28S (p.Ala28Ser) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- rs201019733
- gnomAD 9-130714374-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- MetaLR 0.31
- MetaSVM -0.54
- CADD 24.60
- SIFT 0.04
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Literature evidence available