L29F (p.Leu29Phe) variant of ABL1 (Tyrosine-protein kinase ABL1)
L29F (p.Leu29Phe) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L29F (p.Leu29Phe) variant details
- p.Leu29Phe
- Ensembl rs2132956050
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.17
- MetaLR 0.16
- MetaSVM -0.91
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available