A141P (p.Ala141Pro) variant of CD40LG (CD40 ligand)
A141P (p.Ala141Pro) 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 0.73 / 1. The record also includes published literature and structural context.
A141P (p.Ala141Pro) variant details
- p.Ala141Pro
- rs1387503550
- ClinGen CA414755575
- ClinVar RCV000606199
- TOPMed rs1387503550
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.84
- MetaLR 0.83
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.11
- EVE 0.37
- ClinVar: Pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)