Q100E (p.Gln100Glu) variant of NCF2 (Neutrophil cytosol factor 2)
Q100E (p.Gln100Glu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q100E (p.Gln100Glu) variant details
- p.Gln100Glu
- rs119103276
- ClinGen CA1285006
- ClinVar RCV000913787
- 1000Genomes rs119103276
- Conflicting interpretations
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.08
- MetaLR 0.22
- MetaSVM -0.90
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.89
- ClinVar: Conflicting classifications of pathogenicity (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)