Y79H (p.Tyr79His) variant of RPE65 (Retinoid isomerohydrolase)
Y79H (p.Tyr79His) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y79H (p.Tyr79His) variant details
- p.Tyr79His
- rs61752869
- ClinGen CA226528
- ClinVar RCV000085182
- ClinVar RCV003764790
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.95
- MetaLR 0.93
- MetaSVM 1.03
- CADD 28.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in RP20)
- UniProt: Pathogenic (in RP20)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. (PMID 11095629)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)