R31K (p.Arg31Lys) variant of ABL1 (Tyrosine-protein kinase ABL1)
R31K (p.Arg31Lys) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R31K (p.Arg31Lys) variant details
- p.Arg31Lys
- gnomAD 9-130714357-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- MetaLR 0.29
- MetaSVM -0.58
- CADD 24.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Literature evidence available