L50M (p.Leu50Met) variant of TSC1 (Hamartin)
L50M (p.Leu50Met) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L50M (p.Leu50Met) variant details
- p.Leu50Met
- Ensembl rs2132268675
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available