G46E (p.Gly46Glu) variant of RPE65 (Retinoid isomerohydrolase)
G46E (p.Gly46Glu) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar 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 0.98 / 1. The record also includes structural context.
G46E (p.Gly46Glu) variant details
- p.Gly46Glu
- rs1022487798
- NCI-TCGA Cosmic COSV9925
- Ensembl rs1022487798
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- MutPred 0.98
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- UniProt: Likely pathogenic
- Structural context available