E3* (p.Glu3Ter) variant of ABL1 (Tyrosine-protein kinase ABL1)
E3* (p.Glu3Ter) in ABL1 (Tyrosine-protein kinase ABL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- gnomAD rs1430184898
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 21.10
- Population evidence available
- Structural context available