L17R (p.Leu17Arg) variant of ABL1 (Tyrosine-protein kinase ABL1)
L17R (p.Leu17Arg) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L17R (p.Leu17Arg) variant details
- p.Leu17Arg
- gnomAD 9-130835496-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.40
- MetaLR 0.33
- MetaSVM -0.60
- CADD 22.20
- PolyPhen-2 0.99
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available