W516R (p.Trp516Arg) variant of CYBB (NADPH oxidase 2)
W516R (p.Trp516Arg) 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.
W516R (p.Trp516Arg) variant details
- p.Trp516Arg
- rs151344487
- ClinGen CA219697
- ClinVar RCV000059244
- Ensembl rs151344487
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and… (PMID 10914676)
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)