P25Q (p.Pro25Gln) variant of RPE65 (Retinoid isomerohydrolase)
P25Q (p.Pro25Gln) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- ExAC rs199683808
- TOPMed rs199683808
- gnomAD rs199683808
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available