G30E (p.Gly30Glu) variant of SMAD4 (SMAD family member 4)
G30E (p.Gly30Glu) 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.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- Ensembl rs2144400831
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available