A57S (p.Ala57Ser) variant of AKT3 (Q9Y243)
A57S (p.Ala57Ser) in AKT3 (Q9Y243) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- Ensembl rs1685011473
- NCI-TCGA Cosmic COSV5561
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- MetaLR 0.10
- MetaSVM -1.03
- CADD 20.70
- PolyPhen-2 0.06
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)