L17V (p.Leu17Val) variant of SMAD4 (SMAD family member 4)
L17V (p.Leu17Val) 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.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- Ensembl rs1555684997
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available