Q16* (p.Gln16Ter) variant of ABL2 (Tyrosine-protein kinase ABL2)
Q16* (p.Gln16Ter) in ABL2 (Tyrosine-protein kinase ABL2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
Q16* (p.Gln16Ter) variant details
- p.Gln16Ter
- TOPMed rs1428804229
- gnomAD rs1428804229
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 36.00
- Population evidence available