R515W (p.Arg515Trp) variant of RPE65 (Retinoid isomerohydrolase)
R515W (p.Arg515Trp) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R515W (p.Arg515Trp) variant details
- p.Arg515Trp
- rs121917745
- ClinGen CA226519
- ClinVar RCV000013999
- ClinVar RCV000014000
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.94
- MetaLR 0.92
- MetaSVM 1.07
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in RP20)
- UniProt: Pathogenic (in RP20)
- Most common in the East Asian population (allele frequency 0.00071)
- Structural context available
- Cited in: A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using… (PMID 15557452)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)