A57S (p.Ala57Ser) variant of CYBB (NADPH oxidase 2)
A57S (p.Ala57Ser) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- rs1928998515
- ClinGen CA412972745
- ClinVar RCV003084665
- ClinVar RCV004690365
- Conflicting interpretations
- not specified; Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.88
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Granulomatous disease, chronic, X-linked)
- EBI: Likely pathogenic (in CGDX)
- UniProt: Likely pathogenic (in CGDX)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)