R54R (p.Arg54Arg) variant of CYBB (NADPH oxidase 2)
R54R (p.Arg54Arg) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R54R (p.Arg54Arg) variant details
- p.Arg54Arg
- rs932660228
- gnomAD X-37783508-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 11.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00016)
- Structural context available
- Literature evidence available