R166* (p.Arg166Ter) variant of AKT3 (Q9Y243)
R166* (p.Arg166Ter) in AKT3 (Q9Y243) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data.
R166* (p.Arg166Ter) variant details
- p.Arg166Ter
- rs2147812279
- ClinGen CA345669792
- NCI-TCGA Cosmic COSV5561
- cosmic curated COSV55612
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available