M18T (p.Met18Thr) variant of TSC1 (Hamartin)
M18T (p.Met18Thr) in TSC1 (Hamartin) 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.
M18T (p.Met18Thr) variant details
- p.Met18Thr
- Ensembl rs2132295475
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available