C537F (p.Cys537Phe) variant of CYBB (NADPH oxidase 2)
C537F (p.Cys537Phe) 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.
C537F (p.Cys537Phe) variant details
- p.Cys537Phe
- rs2519214389
- ClinGen CA412978683
- ClinVar RCV003055907
- 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)