C64R (p.Cys64Arg) variant of CYBB (NADPH oxidase 2)
C64R (p.Cys64Arg) 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 0.90 / 1. The record also includes published literature and structural context.
C64R (p.Cys64Arg) variant details
- p.Cys64Arg
- rs2146804063
- ClinGen CA412972791
- ClinVar RCV001594442
- Ensembl rs2146804063
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.84
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)