P339H (p.Pro339His) variant of CYBB (NADPH oxidase 2)
P339H (p.Pro339His) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P339H (p.Pro339His) variant details
- p.Pro339His
- rs151344470
- ClinGen CA219666
- ClinVar RCV000059226
- ClinVar RCV001207941
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.99
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic… (PMID 10089913)
- Cited in: Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and… (PMID 10914676)