K80* (p.Lys80Ter) variant of PRPH2 (Peripherin-2)
K80* (p.Lys80Ter) 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.
K80* (p.Lys80Ter) variant details
- p.Lys80Ter
- rs2548309835
- ClinGen CA364138199
- ClinVar RCV003592593
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available