S117Y (p.Ser117Tyr) variant of RPE65 (Retinoid isomerohydrolase)
S117Y (p.Ser117Tyr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
S117Y (p.Ser117Tyr) variant details
- p.Ser117Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available