L2V (p.Leu2Val) variant of ABL1 (Tyrosine-protein kinase ABL1)
L2V (p.Leu2Val) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L2V (p.Leu2Val) variant details
- p.Leu2Val
- gnomAD 9-130835450-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.74
- CADD 20.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available