Y368H (p.Tyr368His) variant of RPE65 (Retinoid isomerohydrolase)
Y368H (p.Tyr368His) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y368H (p.Tyr368His) variant details
- p.Tyr368His
- rs62653011
- ClinGen CA226484
- ClinVar RCV000022749
- ClinVar RCV000022750
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.97
- MetaLR 0.91
- MetaSVM 1.04
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in RP20)
- UniProt: Pathogenic (in RP20)
- Most common in the Non-Finnish European population (allele frequency 0.00016)
- Structural context available
- Cited in: Clinical course and visual function in a family with mutations in the RPE65 gene. (PMID 11786058)
- Cited in: A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal… (PMID 12960219)