P415R (p.Pro415Arg) variant of CYBB (NADPH oxidase 2)
P415R (p.Pro415Arg) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P415R (p.Pro415Arg) variant details
- p.Pro415Arg
- rs137854585
- ClinGen CA412977804
- ClinVar RCV001228259
- TOPMed rs137854585
- Likely pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- CADD 24.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)