R58C (p.Arg58Cys) variant of NCF4 (Neutrophil cytosol factor 4)
R58C (p.Arg58Cys) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Granulomatous disease, chronic, autosomal recessive, cytochrome b. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- rs143532979
- ClinGen CA10212881
- cosmic curated COSV50624
- ClinVar RCV000595538
- Conflicting interpretations
- not specified; Granulomatous disease, chronic, autosomal recessive, cytochrome b
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.48
- MetaLR 0.37
- MetaSVM -0.13
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Granulomatous disease, chronic, autosomal recessi)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)