R60C (p.Arg60Cys) variant of NCF4 (Neutrophil cytosol factor 4)
R60C (p.Arg60Cys) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R60C (p.Arg60Cys) variant details
- p.Arg60Cys
- rs183179978
- ClinGen CA10212883
- cosmic curated COSV50622
- ClinVar RCV001246430
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.33
- MetaLR 0.29
- MetaSVM -0.46
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)