G116C (p.Gly116Cys) variant of CD40LG (CD40 ligand)
G116C (p.Gly116Cys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
G116C (p.Gly116Cys) variant details
- p.Gly116Cys
- rs2148552406
- ClinGen CA414754901
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10103
- Likely pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.60
- MetaLR 0.38
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.60
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 1)
- EBI: Likely pathogenic (in HIGM1)
- UniProt: Likely pathogenic (in HIGM1)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)