Y5* (p.Tyr5Ter) variant of CD40LG (CD40 ligand)
Y5* (p.Tyr5Ter) in CD40LG (CD40 ligand) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y5* (p.Tyr5Ter) variant details
- p.Tyr5Ter
- rs2148550523
- ClinGen CA414751446
- ClinVar RCV001384131
- Ensembl rs2148550523
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)