A31T (p.Ala31Thr) variant of TSC2 (Tuberin)
A31T (p.Ala31Thr) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- Ensembl rs2150972376
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available