R54G (p.Arg54Gly) variant of CYBB (NADPH oxidase 2)
R54G (p.Arg54Gly) 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.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- rs932660228
- ClinGen CA412972728
- ClinVar RCV003509045
- Likely pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- ClinVar: Likely pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Likely pathogenic (in CGDX)
- UniProt: Likely pathogenic (in CGDX)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)