R102* (p.Arg102Ter) variant of NCF2 (Neutrophil cytosol factor 2)
R102* (p.Arg102Ter) in NCF2 (Neutrophil cytosol factor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CGD2. 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.
R102* (p.Arg102Ter) variant details
- p.Arg102Ter
- rs374402066
- ClinGen CA212789
- ClinVar RCV000002329
- ESP rs374402066
- Pathogenic
- in CGD2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 39.00
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide… (PMID 10498624)
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)