R9* (p.Arg9Ter) variant of PLP1 (Myelin proteolipid protein)
R9* (p.Arg9Ter) in PLP1 (Myelin proteolipid protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- rs2074488502
- ClinGen CA414101799
- ClinVar RCV001260516
- Ensembl rs2074488502
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available