D500G (p.Asp500Gly) variant of CYBB (NADPH oxidase 2)
D500G (p.Asp500Gly) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
D500G (p.Asp500Gly) variant details
- p.Asp500Gly
- rs137854593
- ClinGen CA121250
- ClinVar RCV000011678
- ClinVar RCV000059242
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the… (PMID 8182143)
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)