C59* (p.Cys59Ter) variant of AKT3 (Q9Y243)
C59* (p.Cys59Ter) in AKT3 (Q9Y243) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
C59* (p.Cys59Ter) variant details
- p.Cys59Ter
- Ensembl rs2147921781
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 36.00
- Population evidence available