V82L (p.Val82Leu) variant of AKT3 (Q9Y243)
V82L (p.Val82Leu) 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 0.58 / 1. The record also includes population frequency data.
V82L (p.Val82Leu) variant details
- p.Val82Leu
- rs2528367588
- ClinVar RCV004575293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.16
- MetaSVM -0.99
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)