R77* (p.Arg77Ter) variant of NCF2 (Neutrophil cytosol factor 2)
R77* (p.Arg77Ter) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R77* (p.Arg77Ter) variant details
- p.Arg77Ter
- rs752901695
- ClinGen CA1285026
- NCI-TCGA Cosmic COSV6231
- cosmic curated COSV62315
- Pathogenic
- in CGD2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 38.00
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)