Y35F (p.Tyr35Phe) variant of RHEB (GTP-binding protein Rheb)
Y35F (p.Tyr35Phe) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y35F (p.Tyr35Phe) variant details
- p.Tyr35Phe
- gnomAD rs1057519950
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available