Y79C (p.Tyr79Cys) variant of RPE65 (Retinoid isomerohydrolase)
Y79C (p.Tyr79Cys) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in RP20. The record also includes structural context.
Y79C (p.Tyr79Cys) variant details
- p.Tyr79Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- in RP20
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in RP20)
- Structural context available