S88I (p.Ser88Ile) variant of SMAD2 (SMAD family member 2)
S88I (p.Ser88Ile) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S88I (p.Ser88Ile) variant details
- p.Ser88Ile
- gnomAD rs1173764083
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available