R66* (p.Arg66Ter) variant of NCF2 (Neutrophil cytosol factor 2)
R66* (p.Arg66Ter) 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 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R66* (p.Arg66Ter) variant details
- p.Arg66Ter
- rs750782115
- ClinGen CA1285032
- NCI-TCGA Cosmic COSV6231
- cosmic curated COSV62314
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.695
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)