S30A (p.Ser30Ala) variant of TSC2 (Tuberin)
S30A (p.Ser30Ala) in TSC2 (Tuberin) is a missense change. The record also includes structural context.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- Ensembl rs2150972276
- Missense
- Structural context available