Y35L (p.Tyr35Leu) variant of RHEB (GTP-binding protein Rheb)
Y35L (p.Tyr35Leu) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Isolated focal cortical dysplasia type IIb; Isolated focal cortical dysplasia ty. The record also includes structural context.
Y35L (p.Tyr35Leu) variant details
- p.Tyr35Leu
- rs2536111758
- ClinVar RCV004566491
- Pathogenic
- Isolated focal cortical dysplasia type IIb; Isolated focal cortical dysplasia ty
- Missense
- ClinVar: Pathogenic (Isolated focal cortical dysplasia type IIb; Isolated focal corti)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available