W22* (p.Trp22Ter) variant of NCF2 (Neutrophil cytosol factor 2)
W22* (p.Trp22Ter) in NCF2 (Neutrophil cytosol factor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
W22* (p.Trp22Ter) variant details
- p.Trp22Ter
- rs2528039666
- ClinGen CA343684958
- ClinVar RCV002671990
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.565
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)