L18M (p.Leu18Met) variant of TSC2 (Tuberin)
L18M (p.Leu18Met) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- cosmic curated COSV10940
- Ensembl rs1596234078
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available