G408R (p.Gly408Arg) variant of CYBB (NADPH oxidase 2)
G408R (p.Gly408Arg) 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 0.96 / 1. The record also includes published literature and structural context.
G408R (p.Gly408Arg) variant details
- p.Gly408Arg
- rs151344473
- ClinGen CA219683
- ClinVar RCV000059235
- ClinVar RCV002513776
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian… (PMID 18773283)
- Cited in: X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of… (PMID 9585602)