W361R (p.Trp361Arg) variant of CYBB (NADPH oxidase 2)
W361R (p.Trp361Arg) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Granulomatous disease, chronic, X-linked. The record also includes published literature and structural context.
W361R (p.Trp361Arg) variant details
- p.Trp361Arg
- rs2519208804
- ClinGen CA412977424
- ClinVar RCV003622571
- Likely pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- ClinVar: Likely pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)