W22* (p.Trp22Ter) variant of AKT3 (Q9Y243)
W22* (p.Trp22Ter) in AKT3 (Q9Y243) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
W22* (p.Trp22Ter) variant details
- p.Trp22Ter
- TOPMed rs1199307351
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 32.00
- Population evidence available