G53A (p.Gly53Ala) variant of RPE65 (Retinoid isomerohydrolase)
G53A (p.Gly53Ala) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G53A (p.Gly53Ala) variant details
- p.Gly53Ala
- ExAC rs763536294
- TOPMed rs763536294
- gnomAD rs763536294
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.88
- MetaLR 0.94
- MetaSVM 1.06
- CADD 24.90
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available