R81I (p.Arg81Ile) variant of RPE65 (Retinoid isomerohydrolase)
R81I (p.Arg81Ile) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R81I (p.Arg81Ile) variant details
- p.Arg81Ile
- rs1429137932
- ClinGen CA340748885
- ClinVar RCV000754977
- ClinVar RCV001053470
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.85
- MetaLR 0.91
- MetaSVM 0.97
- CADD 28.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00079)
- 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)