E95K (p.Glu95Lys) variant of RPE65 (Retinoid isomerohydrolase)
E95K (p.Glu95Lys) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in RP20. The record also includes structural context.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- TOPMed rs61752874
- Likely pathogenic
- in RP20
- Missense
- EBI: Likely pathogenic (in RP20)
- UniProt: Likely pathogenic (in RP20)
- Structural context available