Q91* (p.Gln91Ter) variant of WAS (P42768)
Q91* (p.Gln91Ter) 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.
Q91* (p.Gln91Ter) variant details
- p.Gln91Ter
- rs1557006354
- ClinGen CA412866685
- ClinVar RCV000633306
- Ensembl rs1557006354
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)