R91Q (p.Arg91Gln) variant of RPE65 (Retinoid isomerohydrolase)
R91Q (p.Arg91Gln) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R91Q (p.Arg91Gln) variant details
- p.Arg91Gln
- rs61752873
- ClinGen CA226533
- ClinVar RCV000085186
- ClinVar RCV001061074
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.66
- MetaLR 0.65
- MetaSVM 0.24
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available
- Cited in: Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. (PMID 11462243)
- Cited in: Predicting the pathogenicity of RPE65 mutations. (PMID 19431183)