P415H (p.Pro415His) variant of CYBB (NADPH oxidase 2)
P415H (p.Pro415His) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
P415H (p.Pro415His) variant details
- p.Pro415His
- rs137854585
- ClinGen CA121230
- ClinVar RCV000011667
- ClinVar RCV000059237
- Pathogenic
- not provided; Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (not provided; Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous… (PMID 2556453)
- Cited in: The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil… (PMID 3600768)