G20E (p.Gly20Glu) variant of TSC2 (Tuberin)
G20E (p.Gly20Glu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- cosmic curated COSV99526
- Ensembl rs2150971313
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available