W140R (p.Trp140Arg) variant of CD40LG (CD40 ligand)
W140R (p.Trp140Arg) 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 0.91 / 1. The record also includes published literature and structural context.
W140R (p.Trp140Arg) variant details
- p.Trp140Arg
- rs104894777
- ClinGen CA414755569
- ClinVar RCV001253461
- UniProt VAR 007519
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.85
- 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: Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of… (PMID 7717401)
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)