N22N (p.Asn22Asn) variant of CYBB (NADPH oxidase 2)
N22N (p.Asn22Asn) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N22N (p.Asn22Asn) variant details
- p.Asn22Asn
- rs193922450
- gnomAD X-37782108-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.89
- CADD 5.81
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:BEB population (allele frequency 0.0067)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)