R44L (p.Arg44Leu) variant of RPE65 (Retinoid isomerohydrolase)
R44L (p.Arg44Leu) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- rs61751282
- ClinGen CA340749205
- ClinVar RCV001973421
- ClinVar RCV006453839
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- MutPred 0.87
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20; not speci)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- 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)