G22E (p.Gly22Glu) variant of TSC2 (Tuberin)
G22E (p.Gly22Glu) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- Ensembl rs2084676497
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available