N13K (p.Asn13Lys) variant of SMAD4 (SMAD family member 4)
N13K (p.Asn13Lys) 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.
N13K (p.Asn13Lys) variant details
- p.Asn13Lys
- ESP rs376371717
- ExAC rs376371717
- TOPMed rs376371717
- gnomAD rs376371717
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available