Y249C (p.Tyr249Cys) variant of RPE65 (Retinoid isomerohydrolase)
Y249C (p.Tyr249Cys) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of RPE65-related recessive retinopathy; Retinitis pigmentosa 20; Leber congenital a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y249C (p.Tyr249Cys) variant details
- p.Tyr249Cys
- rs373652862
- ClinGen CA902404
- ClinVar RCV001206748
- ClinVar RCV001833815
- Pathogenic/Likely pathogenic
- RPE65-related recessive retinopathy; Retinitis pigmentosa 20; Leber congenital a
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.95
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (RPE65-related recessive retinopathy; Retinitis pigmentosa 20; Le)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- 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)