H527Y (p.His527Tyr) variant of RPE65 (Retinoid isomerohydrolase)
H527Y (p.His527Tyr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar 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 0.91 / 1. The record also includes population frequency data and structural context.
H527Y (p.His527Tyr) variant details
- p.His527Tyr
- rs779073856
- ExAC rs779073856
- gnomAD rs779073856
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.90
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available