R85H (p.Arg85His) variant of RPE65 (Retinoid isomerohydrolase)
R85H (p.Arg85His) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Leber congenital amaurosis 2; Retinitis pigmentosa 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R85H (p.Arg85His) variant details
- p.Arg85His
- rs61752870
- ClinGen CA226529
- ClinVar RCV000085183
- ClinVar RCV002514526
- Uncertain significance
- not specified; Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.68
- MetaLR 0.77
- MetaSVM 0.73
- CADD 24.20
- PolyPhen-2 0.10
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; Leber congenital amaurosis 2; Retinitis pigmentos)
- EBI: Variant of uncertain significance (in RP20)
- UniProt: Uncertain significance (in RP20)
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. (PMID 11095629)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)