R31W (p.Arg31Trp) variant of CYBB (NADPH oxidase 2)
R31W (p.Arg31Trp) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- rs1556464560
- ClinGen CA412972513
- NCI-TCGA Cosmic COSV1010
- ClinVar RCV003073703
- Conflicting interpretations
- Inborn genetic diseases; Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.22
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Granulomatous disease, chronic, X-linke)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)