H21Q (p.His21Gln) variant of SMAD4 (SMAD family member 4)
H21Q (p.His21Gln) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
H21Q (p.His21Gln) variant details
- p.His21Gln
- Ensembl rs1555685004
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available