H68Y (p.His68Tyr) variant of RPE65 (Retinoid isomerohydrolase)
H68Y (p.His68Tyr) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
H68Y (p.His68Tyr) variant details
- p.His68Tyr
- rs61752866
- ClinGen CA226523
- ClinVar RCV000085179
- ClinVar RCV003466999
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.93
- MetaLR 0.92
- MetaSVM 0.91
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Leber congenital amaurosis)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. (PMID 9801879)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)