L100* (p.Leu100Ter) variant of CD40LG (CD40 ligand)
L100* (p.Leu100Ter) 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.
L100* (p.Leu100Ter) variant details
- p.Leu100Ter
- rs2522111616
- ClinGen CA414754560
- ClinVar RCV002899648
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)