Y83* (p.Tyr83Ter) variant of PRPH2 (Peripherin-2)
Y83* (p.Tyr83Ter) in PRPH2 (Peripherin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y83* (p.Tyr83Ter) variant details
- p.Tyr83Ter
- rs61755775
- ClinGen CA364138134
- ClinVar RCV002857924
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available