F83L (p.Phe83Leu) variant of RPE65 (Retinoid isomerohydrolase)
F83L (p.Phe83Leu) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
F83L (p.Phe83Leu) variant details
- p.Phe83Leu
- rs2100828545
- ClinGen CA340748617
- ClinVar RCV001942144
- Ensembl rs2100828545
- Pathogenic
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- MutPred 0.86
- ClinVar: Pathogenic (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- EBI: Pathogenic
- UniProt: 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)