G113E (p.Gly113Glu) variant of NCF2 (Neutrophil cytosol factor 2)
G113E (p.Gly113Glu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G113E (p.Gly113Glu) variant details
- p.Gly113Glu
- rs200286542
- ClinGen CA1284998
- ClinVar RCV003051723
- 1000Genomes rs200286542
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.74
- MetaLR 0.69
- MetaSVM 0.35
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.43
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)