R91W (p.Arg91Trp) variant of RPE65 (Retinoid isomerohydrolase)
R91W (p.Arg91Trp) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R91W (p.Arg91Trp) variant details
- p.Arg91Trp
- rs61752871
- ClinGen CA226531
- ClinVar RCV000013994
- ClinVar RCV000085184
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.85
- MetaLR 0.88
- MetaSVM 0.94
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in RP20 and LCA2)
- UniProt: Pathogenic (in RP20 and LCA2)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. (PMID 11095629)
- Cited in: Evaluation of genotype-phenotype associations in leber congenital amaurosis. (PMID 16205573)