W64* (p.Trp64Ter) variant of WAS (P42768)
W64* (p.Trp64Ter) 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.
W64* (p.Trp64Ter) variant details
- p.Trp64Ter
- rs2147262855
- ClinGen CA412866362
- ClinVar RCV001817745
- ClinVar RCV002542702
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)