W97* (p.Trp97Ter) variant of PRPH2 (Peripherin-2)
W97* (p.Trp97Ter) 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.
W97* (p.Trp97Ter) variant details
- p.Trp97Ter
- rs1761913693
- ClinGen CA364137994
- ClinVar RCV001067713
- Ensembl rs1761913693
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available