R57H (p.Arg57His) variant of NCF4 (Neutrophil cytosol factor 4)
R57H (p.Arg57His) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R57H (p.Arg57His) variant details
- p.Arg57His
- rs746353194
- ClinGen CA411379023
- cosmic curated COSV50623
- ClinVar RCV001943111
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.59
- MetaLR 0.52
- MetaSVM 0.14
- CADD 32.00
- 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 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)