G38R (p.Gly38Arg) variant of CD40LG (CD40 ligand)
G38R (p.Gly38Arg) in CD40LG (CD40 ligand) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HIGM1. The record also includes variant effect predictions, published literature, and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- UniProt VAR 017925
- Pathogenic
- in HIGM1
- Missense
- MetaLR 0.42
- MetaSVM -0.15
- SIFT 0.00
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. (PMID 8889581)
- Cited in: Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. (PMID 26545377)