V12M (p.Val12Met) variant of SMAD3 (SMAD family member 3)
V12M (p.Val12Met) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- gnomAD rs1390289135
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available