R347C (p.Arg347Cys) variant of RPE65 (Retinoid isomerohydrolase)
R347C (p.Arg347Cys) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R347C (p.Arg347Cys) variant details
- p.Arg347Cys
- rs936592713
- ClinGen CA23569514
- ClinVar RCV003065733
- ClinVar RCV004572741
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.79
- MetaLR 0.92
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)