E13Q (p.Glu13Gln) variant of TSC2 (Tuberin)
E13Q (p.Glu13Gln) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- Ensembl rs1555494586
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available