S6I (p.Ser6Ile) variant of TSC2 (Tuberin)
S6I (p.Ser6Ile) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- ExAC rs758239066
- TOPMed rs758239066
- gnomAD rs758239066
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available