L38R (p.Leu38Arg) variant of RPE65 (Retinoid isomerohydrolase)
L38R (p.Leu38Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
L38R (p.Leu38Arg) variant details
- p.Leu38Arg
- rs1645946362
- ClinGen CA340749268
- ClinVar RCV001073366
- Ensembl rs1645946362
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- MutPred 0.87
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available