R76Q (p.Arg76Gln) variant of BAK1 (Q16611)
R76Q (p.Arg76Gln) in BAK1 (Q16611) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R76Q (p.Arg76Gln) variant details
- p.Arg76Gln
- rs761535491
- ExAC rs761535491
- gnomAD rs761535491
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.09
- CADD 23.80
- PolyPhen-2 0.47
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available