C537R (p.Cys537Arg) variant of CYBB (NADPH oxidase 2)
C537R (p.Cys537Arg) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C537R (p.Cys537Arg) variant details
- p.Cys537Arg
- rs151344454
- ClinGen CA219704
- ClinVar RCV000059248
- ClinVar RCV000585928
- Pathogenic
- not provided; Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (not provided; Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: CYBB mutation analysis in X-linked chronic granulomatous disease. (PMID 12139950)
- Cited in: X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of… (PMID 9585602)