R57L (p.Arg57Leu) variant of NCF4 (Neutrophil cytosol factor 4)
R57L (p.Arg57Leu) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R57L (p.Arg57Leu) variant details
- p.Arg57Leu
- rs746353194
- ClinGen CA10212879
- ClinVar RCV001058342
- ExAC rs746353194
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.66
- MetaLR 0.56
- MetaSVM 0.31
- CADD 31.00
- PolyPhen-2 1.00
- 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:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)