I19F (p.Ile19Phe) variant of SMAD4 (SMAD family member 4)
I19F (p.Ile19Phe) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
I19F (p.Ile19Phe) variant details
- p.Ile19Phe
- Ensembl rs1568202964
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available