E462A (p.Glu462Ala) variant of CYBB (NADPH oxidase 2)
E462A (p.Glu462Ala) 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.
E462A (p.Glu462Ala) variant details
- p.Glu462Ala
- rs2519211098
- ClinGen CA412978133
- ClinVar RCV002285207
- 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)