N7H (p.Asn7His) variant of CYBB (NADPH oxidase 2)
N7H (p.Asn7His) 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 0.85 / 1. The record also includes published literature and structural context.
N7H (p.Asn7His) variant details
- p.Asn7His
- rs1890282710
- ClinGen CA412971946
- ClinVar RCV003855775
- Ensembl rs1890282710
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.55
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)