G167R (p.Gly167Arg) variant of CD40LG (CD40 ligand)
G167R (p.Gly167Arg) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgM syndrome type 1. The record also includes published literature and structural context.
G167R (p.Gly167Arg) variant details
- p.Gly167Arg
- rs2522117875
- ClinGen CA414755748
- ClinVar RCV003066384
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- ClinVar: Pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)