Q70* (p.Gln70Ter) variant of CD40LG (CD40 ligand)
Q70* (p.Gln70Ter) in CD40LG (CD40 ligand) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
Q70* (p.Gln70Ter) variant details
- p.Gln70Ter
- rs2148551102
- ClinGen CA414753158
- ClinVar RCV003066381
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.16
- MetaLR 0.21
- MetaSVM -0.85
- PolyPhen-2 0.91
- SIFT 0.04
- MutPred 0.32
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)