E38K (p.Glu38Lys) variant of SMAD2 (SMAD family member 2)
E38K (p.Glu38Lys) 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 not provided. The record also includes structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- cosmic curated COSV51002
- Ensembl rs2144474767
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available