A2G (p.Ala2Gly) variant of TSC2 (Tuberin)
A2G (p.Ala2Gly) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- Ensembl rs2084668501
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available