R85S (p.Arg85Ser) variant of RPE65 (Retinoid isomerohydrolase)
R85S (p.Arg85Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 20. The record also includes structural context.
R85S (p.Arg85Ser) variant details
- p.Arg85Ser
- ExAC rs763317722
- TOPMed rs763317722
- gnomAD rs763317722
- Likely pathogenic
- Retinitis pigmentosa 20
- Missense
- ClinVar: Likely pathogenic (Retinitis pigmentosa 20)
- EBI: Variant of uncertain significance (in RP20)
- UniProt: Uncertain significance (in RP20)
- Structural context available