Y172C (p.Tyr172Cys) variant of CD40LG (CD40 ligand)
Y172C (p.Tyr172Cys) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyper-IgM syndrome type 1. The record also includes published literature and structural context.
Y172C (p.Tyr172Cys) variant details
- p.Tyr172Cys
- rs2522117947
- ClinGen CA414755784
- ClinVar RCV003041484
- Likely pathogenic
- Hyper-IgM syndrome type 1
- Missense
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)