R66* (p.Arg66Ter) variant of AKT3 (Q9Y243)
R66* (p.Arg66Ter) in AKT3 (Q9Y243) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
R66* (p.Arg66Ter) variant details
- p.Arg66Ter
- rs1399248274
- TOPMed rs1399248274
- gnomAD rs1399248274
- NCI-TCGA Cosmic COSV5560
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available