R43R (p.Arg43Arg) variant of CYBB (NADPH oxidase 2)
R43R (p.Arg43Arg) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R43R (p.Arg43Arg) variant details
- p.Arg43Arg
- rs2146803168
- gnomAD X-37782171-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 12.00
- Most common in the Non-Finnish European population (allele frequency 6.2e-06)
- Structural context available
- Literature evidence available