Q90* (p.Gln90Ter) variant of CD40LG (CD40 ligand)
Q90* (p.Gln90Ter) in CD40LG (CD40 ligand) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q90* (p.Gln90Ter) variant details
- p.Gln90Ter
- rs2522106594
- ClinGen CA414753576
- ClinVar RCV002823885
- ClinVar RCV003222445
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)