Q26K (p.Gln26Lys) variant of SMAD3 (SMAD family member 3)
Q26K (p.Gln26Lys) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q26K (p.Gln26Lys) variant details
- p.Gln26Lys
- Ensembl rs2140188856
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available