R166Q (p.Arg166Gln) variant of AKT3 (Q9Y243)
R166Q (p.Arg166Gln) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
R166Q (p.Arg166Gln) variant details
- p.Arg166Gln
- rs2528154496
- ClinVar RCV004588869
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- MetaLR 0.06
- MetaSVM -1.13
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)