R11* (p.Arg11Ter) variant of CD40LG (CD40 ligand)
R11* (p.Arg11Ter) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R11* (p.Arg11Ter) variant details
- p.Arg11Ter
- rs193922135
- ClinGen CA260203
- NCI-TCGA Cosmic COSV6569
- cosmic curated COSV65699
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 24.80
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)