T23I (p.Thr23Ile) variant of TSC2 (Tuberin)
T23I (p.Thr23Ile) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2. The record also includes structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- Ensembl rs2150971606
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- UniProt: Uncertain significance
- Structural context available