D55R (p.Asp55Arg) variant of CD40LG (CD40 ligand)
D55R (p.Asp55Arg) in CD40LG (CD40 ligand) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
D55R (p.Asp55Arg) variant details
- p.Asp55Arg
- rs2522106375
- ClinGen CA2580101571
- ClinVar RCV002285110
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available