S12I (p.Ser12Ile) variant of SMAD4 (SMAD family member 4)
S12I (p.Ser12Ile) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- Ensembl rs2144400408
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available