F50S (p.Phe50Ser) variant of RPE65 (Retinoid isomerohydrolase)
F50S (p.Phe50Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
F50S (p.Phe50Ser) variant details
- p.Phe50Ser
- NCI-TCGA Cosmic COSV5201
- TOPMed rs1186660643
- gnomAD rs1186660643
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Structural context available