R105Q (p.Arg105Gln) variant of NCF4 (Neutrophil cytosol factor 4)
R105Q (p.Arg105Gln) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chronic granulomatous disease; Granulomatous disease, chronic, autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R105Q (p.Arg105Gln) variant details
- p.Arg105Gln
- rs387906808
- ClinGen CA129011
- cosmic curated COSV50621
- ClinVar RCV000023113
- Pathogenic
- Chronic granulomatous disease; Granulomatous disease, chronic, autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.68
- MetaLR 0.85
- MetaSVM 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Chronic granulomatous disease; Granulomatous disease, chronic, a)
- EBI: Pathogenic (in CGD3)
- UniProt: Pathogenic (in CGD3)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective… (PMID 19692703)
- Cited in: Inherited p40phox deficiency differs from classic chronic granulomatous disease. (PMID 29969437)