W11* (p.Trp11Ter) variant of CD40 (P25942)
W11* (p.Trp11Ter) in CD40 (P25942) 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 0.87 / 1. The record also includes population frequency data and structural context.
W11* (p.Trp11Ter) variant details
- p.Trp11Ter
- rs1211645093
- ClinGen CA409200600
- ClinVar RCV002876679
- TOPMed rs1211645093
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available