T27R (p.Thr27Arg) variant of RPE65 (Retinoid isomerohydrolase)
T27R (p.Thr27Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
T27R (p.Thr27Arg) variant details
- p.Thr27Arg
- TOPMed rs794727245
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available