A123E (p.Ala123Glu) variant of CD40LG (CD40 ligand)
A123E (p.Ala123Glu) 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 0.87 / 1. The record also includes published literature and structural context.
A123E (p.Ala123Glu) variant details
- p.Ala123Glu
- rs104894778
- ClinGen CA255756
- ClinVar RCV000011918
- UniProt VAR 007514
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. (PMID 8094231)
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)