P304R (p.Pro304Arg) variant of CYBB (NADPH oxidase 2)
P304R (p.Pro304Arg) 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 0.84 / 1. The record also includes published literature and structural context.
P304R (p.Pro304Arg) variant details
- p.Pro304Arg
- rs137854596
- ClinGen CA121245
- ClinVar RCV000011674
- ClinVar RCV000059280
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.79
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a… (PMID 11997083)
- Cited in: Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome… (PMID 15338276)