N130K (p.Asn130Lys) variant of SETX (Helicase senataxin)
N130K (p.Asn130Lys) in SETX (Helicase senataxin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
N130K (p.Asn130Lys) variant details
- p.Asn130Lys
- ESP rs138363625
- ExAC rs138363625
- TOPMed rs138363625
- gnomAD rs138363625
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available