N63H (p.Asn63His) variant of CYBB (NADPH oxidase 2)
N63H (p.Asn63His) 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 0.89 / 1. The record also includes published literature and structural context.
N63H (p.Asn63His) variant details
- p.Asn63His
- rs1928999111
- ClinGen CA412972782
- ClinVar RCV001036982
- Ensembl rs1928999111
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- 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)