R76H (p.Arg76His) variant of AKT2 (P31751)
R76H (p.Arg76His) in AKT2 (P31751) is a missense change. Clinical records from ClinVar 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 and structural context.
R76H (p.Arg76His) variant details
- p.Arg76His
- cosmic curated COSV60908
- Ensembl rs2145293719
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.41
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available