R116I (p.Arg116Ile) variant of AKT3 (Q9Y243)
R116I (p.Arg116Ile) 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 0.58 / 1. The record also includes population frequency data.
R116I (p.Arg116Ile) variant details
- p.Arg116Ile
- NCI-TCGA Cosmic COSV9979
- cosmic curated COSV99793
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.06
- MetaSVM -1.09
- CADD 22.30
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)