Q100* (p.Gln100Ter) variant of NCF2 (Neutrophil cytosol factor 2)
Q100* (p.Gln100Ter) in NCF2 (Neutrophil cytosol factor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q100* (p.Gln100Ter) variant details
- p.Gln100Ter
- rs119103276
- ClinGen CA115430
- cosmic curated COSV62314
- ClinVar RCV000002332
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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: Chronic Granulomatous Disease. (PMID 22876374)