L58F (p.Leu58Phe) variant of TSC1 (Hamartin)
L58F (p.Leu58Phe) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- Ensembl rs2132267222
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available