T99P (p.Thr99Pro) variant of SMAD2 (SMAD family member 2)
T99P (p.Thr99Pro) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
T99P (p.Thr99Pro) variant details
- p.Thr99Pro
- Ensembl rs2144384293
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available