R25H (p.Arg25His) variant of AKT1 (P31749)
R25H (p.Arg25His) in AKT1 (P31749) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in CWS6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R25H (p.Arg25His) variant details
- p.Arg25His
- rs1184173073
- cosmic curated COSV10527
- TOPMed rs1184173073
- Variant assessed as somatic; moderate impact.
- in CWS6
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact. (in CWS6)
- Population evidence available
- Structural context available