L6V (p.Leu6Val) variant of ABL1 (Tyrosine-protein kinase ABL1)
L6V (p.Leu6Val) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- TOPMed rs1012244732
- gnomAD rs1012244732
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.31
- MetaLR 0.38
- MetaSVM -0.64
- CADD 16.70
- PolyPhen-2 0.97
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available