S9L (p.Ser9Leu) variant of TSC2 (Tuberin)
S9L (p.Ser9Leu) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- Ensembl rs397515228
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available