R60H (p.Arg60His) variant of NCF4 (Neutrophil cytosol factor 4)
R60H (p.Arg60His) 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.
R60H (p.Arg60His) variant details
- p.Arg60His
- rs369847561
- ClinGen CA10212884
- cosmic curated COSV50620
- NCI-TCGA Cosmic COSV5062
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.25
- MetaLR 0.27
- MetaSVM -0.59
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)