L46R (p.Leu46Arg) variant of CD40LG (CD40 ligand)
L46R (p.Leu46Arg) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 1. The record also includes published literature and structural context.
L46R (p.Leu46Arg) variant details
- p.Leu46Arg
- rs2522103903
- ClinGen CA414752193
- ClinVar RCV003056268
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)