R31Q (p.Arg31Gln) variant of CYBB (NADPH oxidase 2)
R31Q (p.Arg31Gln) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- TOPMed rs1186180772
- gnomAD rs1186180772
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.15
- CADD 7.93
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available