W59* (p.Trp59Ter) variant of CD3E (P07766)
W59* (p.Trp59Ter) in CD3E (P07766) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W59* (p.Trp59Ter) variant details
- p.Trp59Ter
- rs121918659
- ClinGen CA150567
- ClinVar RCV000087025
- Ensembl rs121918659
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. (PMID 8490660)