S19* (p.Ser19Ter) variant of ABL1 (Tyrosine-protein kinase ABL1)
S19* (p.Ser19Ter) in ABL1 (Tyrosine-protein kinase ABL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
S19* (p.Ser19Ter) variant details
- p.Ser19Ter
- gnomAD rs866428555
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 21.00
- Population evidence available
- Structural context available