C250S (p.Cys250Ser) variant of PRPH2 (Peripherin-2)
C250S (p.Cys250Ser) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Stargardt disease; not provided; PRPH2-related disorder. The record also includes structural context.
C250S (p.Cys250Ser) variant details
- p.Cys250Ser
- rs2152005226
- ClinGen CA2499218266
- ClinVar RCV001530376
- Ensembl rs2152005226
- Likely pathogenic
- Stargardt disease; not provided; PRPH2-related disorder
- Missense
- ClinVar: Likely pathogenic (PRPH2-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available