Y239D (p.Tyr239Asp) variant of RPE65 (Retinoid isomerohydrolase)
Y239D (p.Tyr239Asp) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Y239D (p.Tyr239Asp) variant details
- p.Tyr239Asp
- rs61752896
- ClinGen CA226579
- ClinVar RCV000085220
- ClinVar RCV000678618
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.99
- MetaLR 0.94
- MetaSVM 1.10
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2 and RP20)
- UniProt: Pathogenic (in LCA2 and RP20)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Evaluation of genotype-phenotype associations in leber congenital amaurosis. (PMID 16205573)
- Cited in: Predicting the pathogenicity of RPE65 mutations. (PMID 19431183)