E42D (p.Glu42Asp) variant of SMAD2 (SMAD family member 2)
E42D (p.Glu42Asp) 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 not provided. The record also includes structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- rs2144474665
- ClinGen CA402503154
- ClinVar RCV002898795
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available