N22K (p.Asn22Lys) variant of CYBB (NADPH oxidase 2)
N22K (p.Asn22Lys) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 population frequency data, published literature, and structural context.
N22K (p.Asn22Lys) variant details
- p.Asn22Lys
- rs193922450
- ClinGen CA204475
- ClinVar RCV000190516
- 1000Genomes rs193922450
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)