H303N (p.His303Asn) variant of CYBB (NADPH oxidase 2)
H303N (p.His303Asn) 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, variant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
H303N (p.His303Asn) variant details
- p.His303Asn
- rs137854595
- ClinGen CA121257
- ClinVar RCV000011683
- ClinVar RCV000059279
- Pathogenic
- Granulomatous disease, chronic, X-linked, variant
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.75
- MetaLR 0.84
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.48
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked, variant)
- 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)