S80P (p.Ser80Pro) variant of CD40LG (CD40 ligand)
S80P (p.Ser80Pro) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 1. The record also includes variant effect predictions and structural context.
S80P (p.Ser80Pro) variant details
- p.Ser80Pro
- Ensembl rs2148551112
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- MetaLR 0.20
- MetaSVM -0.79
- SIFT 0.04
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- UniProt: Uncertain significance
- Structural context available