D93E (p.Asp93Glu) variant of NCF2 (Neutrophil cytosol factor 2)
D93E (p.Asp93Glu) 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 0.52 / 1. The record also includes published literature and structural context.
D93E (p.Asp93Glu) variant details
- p.Asp93Glu
- rs137854507
- cosmic curated COSV62316
- ClinGen CA145213
- ClinVar RCV000059362
- not provided
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.93
- MetaLR 0.41
- MetaSVM -0.54
- PolyPhen-2 0.98
- SIFT 0.38
- EVE 0.60
- ClinVar: not provided (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Structural context available
- Cited in: Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. (PMID 19624736)
- Cited in: Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. (PMID 23910690)