Q80* (p.Gln80Ter) variant of WAS (P42768)
Q80* (p.Gln80Ter) in WAS (P42768) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q80* (p.Gln80Ter) variant details
- p.Gln80Ter
- rs2062412730
- ClinGen CA412866578
- ClinVar RCV001058741
- Ensembl rs2062412730
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)