G104R (p.Gly104Arg) variant of RPE65 (Retinoid isomerohydrolase)
G104R (p.Gly104Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G104R (p.Gly104Arg) variant details
- p.Gly104Arg
- rs767478543
- ClinGen CA340748268
- ClinVar RCV001257819
- ClinVar RCV005428156
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- MutPred 0.92
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available