G63R (p.Gly63Arg) variant of RPE65 (Retinoid isomerohydrolase)
G63R (p.Gly63Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- rs1645945643
- ClinGen CA340749045
- ClinVar RCV001250679
- Ensembl rs1645945643
- Likely pathogenic
- Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- MutPred 0.92
- ClinVar: Likely pathogenic (Leber congenital amaurosis 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Autosomal Recessive RPE65-Related Retinal Degeneration. (PMID 31725251)