E254D (p.Glu254Asp) variant of RPE65 (Retinoid isomerohydrolase)
E254D (p.Glu254Asp) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The record also includes structural context.
E254D (p.Glu254Asp) variant details
- p.Glu254Asp
- ExAC rs776327627
- gnomAD rs776327627
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available