E17K (p.Glu17Lys) variant of RPE65 (Retinoid isomerohydrolase)
E17K (p.Glu17Lys) 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.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- NCI-TCGA Cosmic COSV5201
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available