R31P (p.Arg31Pro) variant of CYBB (NADPH oxidase 2)
R31P (p.Arg31Pro) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R31P (p.Arg31Pro) variant details
- p.Arg31Pro
- gnomAD X-37782134-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.40
- CADD 2.77
- Most common in the HGDP:PIMA population (allele frequency 0.062)
- Structural context available
- Literature evidence available