G78E (p.Gly78Glu) variant of NCF2 (Neutrophil cytosol factor 2)
G78E (p.Gly78Glu) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G78E (p.Gly78Glu) variant details
- p.Gly78Glu
- rs137854519
- ClinGen CA145211
- cosmic curated COSV62315
- ClinVar RCV000059360
- not provided
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.70
- MetaLR 0.54
- MetaSVM 0.19
- CADD 25.70
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: not provided (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component… (PMID 8286749)
- Cited in: Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide… (PMID 10498624)