R42Q (p.Arg42Gln) variant of NCF1 (Neutrophil cytosol factor 1)
R42Q (p.Arg42Gln) in NCF1 (Neutrophil cytosol factor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- rs119103270
- ClinGen CA115440
- ClinVar RCV000002339
- ClinVar RCV001557272
- Pathogenic
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.82
- MetaLR 0.79
- MetaSVM 0.85
- CADD 28.90
- PolyPhen-2 0.95
- SIFT 0.12
- ClinVar: Pathogenic (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic (in CGD1)
- UniProt: Pathogenic (in CGD1)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.107
- Cited in: Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox… (PMID 11133775)
- Cited in: The PX domains of p47phox and p40phox bind to lipid products of PI(3)K. (PMID 11433300)