R91P (p.Arg91Pro) variant of RPE65 (Retinoid isomerohydrolase)
R91P (p.Arg91Pro) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R91P (p.Arg91Pro) variant details
- p.Arg91Pro
- rs61752873
- ClinGen CA226534
- ClinVar RCV000085187
- ClinVar RCV001250683
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- MutPred 0.90
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Structural context available
- Cited in: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID 17724218)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)