S54Y (p.Ser54Tyr) variant of RPE65 (Retinoid isomerohydrolase)
S54Y (p.Ser54Tyr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S54Y (p.Ser54Tyr) variant details
- p.Ser54Tyr
- TOPMed rs1268808384
- gnomAD rs1268808384
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.57
- MetaLR 0.82
- MetaSVM 0.80
- CADD 25.50
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available