R77Q (p.Arg77Gln) variant of NCF2 (Neutrophil cytosol factor 2)
R77Q (p.Arg77Gln) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Granulomatous disease, chronic, autosomal recessive, cytochrome b. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R77Q (p.Arg77Gln) variant details
- p.Arg77Gln
- rs119103275
- ClinGen CA115435
- cosmic curated COSV62316
- ClinVar RCV000002335
- Uncertain significance
- not specified; Granulomatous disease, chronic, autosomal recessive, cytochrome b
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.48
- MetaLR 0.40
- MetaSVM -0.21
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.12
- ClinVar: Uncertain significance (not specified; Granulomatous disease, chronic, autosomal recessi)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox… (PMID 10598813)
- Cited in: Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). (PMID 20167518)