E59* (p.Glu59Ter) variant of PLP1 (Myelin proteolipid protein)
E59* (p.Glu59Ter) in PLP1 (Myelin proteolipid protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E59* (p.Glu59Ter) variant details
- p.Glu59Ter
- rs1060499653
- ClinGen CA16609398
- ClinVar RCV000449517
- Ensembl rs1060499653
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)