W4R (p.Trp4Arg) variant of CYBB (NADPH oxidase 2)
W4R (p.Trp4Arg) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
W4R (p.Trp4Arg) variant details
- p.Trp4Arg
- rs782495755
- 1000Genomes rs782495755
- ExAC rs782495755
- TOPMed rs782495755
- Benign
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.84
- CADD 24.30
- PolyPhen-2 0.31
- SIFT 0.03
- ClinVar: Benign (Granulomatous disease, chronic, X-linked)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:BEB population (allele frequency 0.0067)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)