R130P (p.Arg130Pro) variant of CYBB (NADPH oxidase 2)
R130P (p.Arg130Pro) 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 0.66 / 1. The record also includes published literature and structural context.
R130P (p.Arg130Pro) variant details
- p.Arg130Pro
- rs193922448
- ClinGen CA213631
- ClinVar RCV000029628
- Ensembl rs193922448
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.67
- PolyPhen-2 0.93
- SIFT 0.07
- EVE 0.18
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)