C5* (p.Cys5Ter) variant of ABL1 (Tyrosine-protein kinase ABL1)
C5* (p.Cys5Ter) in ABL1 (Tyrosine-protein kinase ABL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C5* (p.Cys5Ter) variant details
- p.Cys5Ter
- gnomAD 9-130835461-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 18.50
- Population evidence available
- Structural context available
- Literature evidence available