L26F (p.Leu26Phe) variant of RPE65 (Retinoid isomerohydrolase)
L26F (p.Leu26Phe) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis. The record also includes structural context.
L26F (p.Leu26Phe) variant details
- p.Leu26Phe
- Ensembl rs1571174186
- Uncertain significance
- Leber congenital amaurosis
- Missense
- ClinVar: Uncertain significance (Leber congenital amaurosis)
- UniProt: Uncertain significance
- Structural context available