Y88* (p.Tyr88Ter) variant of WAS (P42768)
Y88* (p.Tyr88Ter) 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.
Y88* (p.Tyr88Ter) variant details
- p.Tyr88Ter
- rs150520117
- ClinGen CA412866647
- ClinVar RCV003041444
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)