T11S (p.Thr11Ser) variant of SMARCA4 (P51532)
T11S (p.Thr11Ser) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rhabdoid tumor predisposition syndrome 2. The record also includes structural context.
T11S (p.Thr11Ser) variant details
- p.Thr11Ser
- TOPMed rs1060502067
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2
- Missense
- ClinVar: Uncertain significance (Rhabdoid tumor predisposition syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available