E3A (p.Glu3Ala) variant of ABL1 (Tyrosine-protein kinase ABL1)
E3A (p.Glu3Ala) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E3A (p.Glu3Ala) variant details
- p.Glu3Ala
- ESP rs369076507
- ExAC rs369076507
- gnomAD rs369076507
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.28
- MetaLR 0.19
- MetaSVM -0.68
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available