H182Y (p.His182Tyr) variant of RPE65 (Retinoid isomerohydrolase)
H182Y (p.His182Tyr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H182Y (p.His182Tyr) variant details
- p.His182Tyr
- rs61752884
- ClinGen CA226559
- ClinVar RCV000085205
- ClinVar RCV001257821
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.91
- MetaLR 0.90
- MetaSVM 0.83
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. (PMID 11462243)
- Cited in: Evaluation of genotype-phenotype associations in leber congenital amaurosis. (PMID 16205573)