A145D (p.Ala145Asp) variant of RPE65 (Retinoid isomerohydrolase)
A145D (p.Ala145Asp) 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.
A145D (p.Ala145Asp) variant details
- p.Ala145Asp
- rs2523444526
- ClinGen CA340747756
- ClinVar RCV003881702
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available