G44R (p.Gly44Arg) variant of NCF2 (Neutrophil cytosol factor 2)
G44R (p.Gly44Arg) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available record places it in the context of Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- rs137854510
- ClinGen CA145207
- ClinVar RCV000059358
- UniProt VAR 065004
- not provided
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.98
- MetaLR 0.72
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.91
- ClinVar: not provided (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.849
- Cited in: Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update). (PMID 11112388)
- Cited in: Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. (PMID 18625437)