T254M (p.Thr254Met) variant of CD40LG (CD40 ligand)
T254M (p.Thr254Met) 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 0.89 / 1. The record also includes published literature and structural context.
T254M (p.Thr254Met) variant details
- p.Thr254Met
- rs193922136
- ClinGen CA260209
- cosmic curated COSV10103
- ClinVar RCV000029466
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.77
- MetaLR 0.97
- MetaSVM 1.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. (PMID 9150729)
- Cited in: Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. (PMID 9746782)