Q56* (p.Gln56Ter) variant of PLP1 (Myelin proteolipid protein)
Q56* (p.Gln56Ter) 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.
Q56* (p.Gln56Ter) variant details
- p.Gln56Ter
- rs1569427311
- ClinGen CA414102309
- ClinVar RCV000680072
- Ensembl rs1569427311
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)