V49M (p.Val49Met) variant of SMAD2 (SMAD family member 2)
V49M (p.Val49Met) 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.
V49M (p.Val49Met) variant details
- p.Val49Met
- rs2511383422
- ClinGen CA402503070
- ClinVar RCV002847737
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available