S128R (p.Ser128Arg) variant of CD40LG (CD40 ligand)
S128R (p.Ser128Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
S128R (p.Ser128Arg) variant details
- p.Ser128Arg
- rs104894773
- ClinVar RCV000011908
- Ensembl rs104894773
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.34
- ClinVar: Pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. (PMID 7678782)
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)