W99* (p.Trp99Ter) variant of AKT2 (P31751)
W99* (p.Trp99Ter) in AKT2 (P31751) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
W99* (p.Trp99Ter) variant details
- p.Trp99Ter
- rs1025730163
- gnomAD 19-40234508-TCC-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 4.88
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available