E65A (p.Glu65Ala) variant of AKT3 (Q9Y243)
E65A (p.Glu65Ala) in AKT3 (Q9Y243) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
E65A (p.Glu65Ala) variant details
- p.Glu65Ala
- Ensembl rs2147921750
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.41
- MetaSVM -0.23
- CADD 26.20
- SIFT 0.00
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)