R54M (p.Arg54Met) variant of CYBB (NADPH oxidase 2)
R54M (p.Arg54Met) 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 0.96 / 1. The record also includes published literature and structural context.
R54M (p.Arg54Met) variant details
- p.Arg54Met
- rs151344479
- ClinGen CA219706
- ClinVar RCV000059249
- UniProt VAR 025614
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: not provided (not provided)
- 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: Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. (PMID 23910690)