L58* (p.Leu58Ter) variant of SMAD2 (SMAD family member 2)
L58* (p.Leu58Ter) in SMAD2 (SMAD family member 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
L58* (p.Leu58Ter) variant details
- p.Leu58Ter
- rs1131691755
- ClinGen CA402502947
- ClinVar RCV000494088
- Ensembl rs1131691755
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available