E3G (p.Glu3Gly) variant of ABL1 (Tyrosine-protein kinase ABL1)
E3G (p.Glu3Gly) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD 9-130835454-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.33
- MetaLR 0.19
- MetaSVM -0.68
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available