R8Q (p.Arg8Gln) variant of NCF4 (Neutrophil cytosol factor 4)
R8Q (p.Arg8Gln) in NCF4 (Neutrophil cytosol factor 4) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs762576326
- ClinGen CA10212793
- ClinVar RCV002010413
- ClinVar RCV005674914
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.00
- CADD 31.00
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)