Y91* (p.Tyr91Ter) variant of PRPH2 (Peripherin-2)
Y91* (p.Tyr91Ter) 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.
Y91* (p.Tyr91Ter) variant details
- p.Tyr91Ter
- rs1761914145
- ClinGen CA364138058
- ClinVar RCV001199520
- Ensembl rs1761914145
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available