A57E (p.Ala57Glu) variant of CYBB (NADPH oxidase 2)
A57E (p.Ala57Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
A57E (p.Ala57Glu) variant details
- p.Ala57Glu
- rs151344481
- ClinGen CA219714
- ClinVar RCV000059253
- ClinVar RCV000815331
- Pathogenic
- Granulomatous disease, chronic, X-linked; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked; 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: A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a… (PMID 8101486)