E56* (p.Glu56Ter) variant of CD40LG (CD40 ligand)
E56* (p.Glu56Ter) 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.
E56* (p.Glu56Ter) variant details
- p.Glu56Ter
- rs2148551084
- ClinGen CA414752798
- ClinVar RCV004819198
- Ensembl rs2148551084
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)