W73* (p.Trp73Ter) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
W73* (p.Trp73Ter) in XIAP (E3 ubiquitin-protein ligase XIAP) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W73* (p.Trp73Ter) variant details
- p.Trp73Ter
- rs2053346219
- ClinGen CA916081272
- ClinVar RCV001065914
- Ensembl rs2053346219
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)