I93K (p.Ile93Lys) variant of SMAD2 (SMAD family member 2)
I93K (p.Ile93Lys) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
I93K (p.Ile93Lys) variant details
- p.Ile93Lys
- cosmic curated COSV10608
- Ensembl rs2144384492
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available