G192S (p.Gly192Ser) variant of NCF1 (Neutrophil cytosol factor 1)
G192S (p.Gly192Ser) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G192S (p.Gly192Ser) variant details
- p.Gly192Ser
- rs119103273
- ClinGen CA115446
- ClinVar RCV000002343
- ExAC rs119103273
- Pathogenic
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.77
- MetaLR 0.56
- MetaSVM 0.35
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox… (PMID 11133775)
- Cited in: Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the… (PMID 16972229)