F262C (p.Phe262Cys) variant of CYBB (NADPH oxidase 2)
F262C (p.Phe262Cys) 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 0.87 / 1. The record also includes published literature and structural context.
F262C (p.Phe262Cys) variant details
- p.Phe262Cys
- rs2146813757
- ClinGen CA412976717
- ClinVar RCV001824240
- Ensembl rs2146813757
- Likely pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.39
- ClinVar: Likely pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)