A235P (p.Ala235Pro) variant of CD40LG (CD40 ligand)
A235P (p.Ala235Pro) 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 0.78 / 1. The record also includes published literature and structural context.
A235P (p.Ala235Pro) variant details
- p.Ala235Pro
- rs104894771
- ClinGen CA255743
- ClinVar RCV000011907
- UniProt VAR 007527
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.81
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 0.98
- SIFT 0.26
- EVE 0.33
- ClinVar: Pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a… (PMID 1385114)
- Cited in: The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. (PMID 7678782)