C59R (p.Cys59Arg) variant of CYBB (NADPH oxidase 2)
C59R (p.Cys59Arg) 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 0.89 / 1. The record also includes published literature and structural context.
C59R (p.Cys59Arg) variant details
- p.Cys59Arg
- rs151344457
- ClinGen CA219716
- ClinVar RCV000059254
- UniProt VAR 007875
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- 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)