E64K (p.Glu64Lys) variant of ABL2 (Tyrosine-protein kinase ABL2)
E64K (p.Glu64Lys) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- ExAC rs759563551
- gnomAD rs759563551
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.27
- CADD 23.70
- PolyPhen-2 0.90
- SIFT 0.12
- Population evidence available