E32* (p.Glu32Ter) variant of SMAD3 (SMAD family member 3)
E32* (p.Glu32Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
E32* (p.Glu32Ter) variant details
- p.Glu32Ter
- rs2140188891
- ClinGen CA393202874
- ClinVar RCV001374825
- Ensembl rs2140188891
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available