R77D (p.Arg77Asp) variant of CD40LG (CD40 ligand)
R77D (p.Arg77Asp) in CD40LG (CD40 ligand) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R77D (p.Arg77Asp) variant details
- p.Arg77Asp
- rs2522106494
- ClinGen CA2580101574
- ClinVar RCV002468418
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)