E3D (p.Glu3Asp) variant of ABL1 (Tyrosine-protein kinase ABL1)
E3D (p.Glu3Asp) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- ExAC rs750562445
- TOPMed rs750562445
- gnomAD rs750562445
- cosmic curated COSV59344
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.89
- CADD 17.80
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available