K12R (p.Lys12Arg) variant of ABL1 (Tyrosine-protein kinase ABL1)
K12R (p.Lys12Arg) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- TOPMed rs1367430242
- gnomAD rs1367430242
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.34
- MetaLR 0.29
- MetaSVM -0.72
- CADD 22.10
- PolyPhen-2 0.96
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available