D97E (p.Asp97Glu) variant of SMAD2 (SMAD family member 2)
D97E (p.Asp97Glu) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
D97E (p.Asp97Glu) variant details
- p.Asp97Glu
- Ensembl rs2144384331
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available