F16S (p.Phe16Ser) variant of RPE65 (Retinoid isomerohydrolase)
F16S (p.Phe16Ser) 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.
F16S (p.Phe16Ser) variant details
- p.Phe16Ser
- Ensembl rs1645959974
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Structural context available