L67R (p.Leu67Arg) variant of RPE65 (Retinoid isomerohydrolase)
L67R (p.Leu67Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L67R (p.Leu67Arg) variant details
- p.Leu67Arg
- rs1344724754
- ClinGen CA340749010
- ClinVar RCV001380404
- ClinVar RCV003469648
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.98
- MetaLR 0.94
- MetaSVM 1.09
- CADD 28.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients. (PMID 22509104)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)