R85C (p.Arg85Cys) variant of RPE65 (Retinoid isomerohydrolase)
R85C (p.Arg85Cys) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R85C (p.Arg85Cys) variant details
- p.Arg85Cys
- rs763317722
- ClinGen CA902559
- ClinVar RCV001098870
- ClinVar RCV001098871
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.82
- MetaLR 0.92
- MetaSVM 1.00
- CADD 29.10
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2; Retinitis)
- EBI: Variant of uncertain significance (in RP20)
- UniProt: Uncertain significance (in RP20)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)