R8W (p.Arg8Trp) variant of NCF4 (Neutrophil cytosol factor 4)
R8W (p.Arg8Trp) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1488661755
- ClinGen CA411374730
- ClinVar RCV001374252
- TOPMed rs1488661755
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.91
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)