R36H (p.Arg36His) variant of BAK1 (Q16611)
R36H (p.Arg36His) in BAK1 (Q16611) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- 1000Genomes rs201643389
- ExAC rs201643389
- TOPMed rs201643389
- gnomAD rs201643389
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.03
- CADD 15.40
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available