E3V (p.Glu3Val) variant of ABL1 (Tyrosine-protein kinase ABL1)
E3V (p.Glu3Val) 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, published literature, and structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- gnomAD 9-130835454-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.39
- MetaLR 0.20
- MetaSVM -0.65
- CADD 21.80
- PolyPhen-2 0.15
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available