R67* (p.Arg67Ter) variant of PKP1 (Plakophilin-1)
R67* (p.Arg67Ter) in PKP1 (Plakophilin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
R67* (p.Arg67Ter) variant details
- p.Arg67Ter
- ExAC rs778655336
- TOPMed rs778655336
- gnomAD rs778655336
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available