F57L (p.Phe57Leu) variant of RPE65 (Retinoid isomerohydrolase)
F57L (p.Phe57Leu) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
F57L (p.Phe57Leu) variant details
- p.Phe57Leu
- rs2100831318
- ClinGen CA340749084
- ClinVar RCV001970390
- Ensembl rs2100831318
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- MutPred 0.78
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)