R54S (p.Arg54Ser) variant of CYBB (NADPH oxidase 2)
R54S (p.Arg54Ser) in CYBB (NADPH oxidase 2) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- rs151344456
- ClinGen CA219708
- ClinVar RCV000059250
- UniProt VAR 007874
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of… (PMID 9585602)
- Cited in: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic… (PMID 10089913)