E3K (p.Glu3Lys) variant of ABL1 (Tyrosine-protein kinase ABL1)
E3K (p.Glu3Lys) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD 9-130835453-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.28
- MetaLR 0.18
- MetaSVM -0.81
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available