N55T (p.Asn55Thr) variant of SHANK2 (Q9UPX8)
N55T (p.Asn55Thr) in SHANK2 (Q9UPX8) is a missense change. Clinical records from EBI and UniProt describe it as likely benign.
N55T (p.Asn55Thr) variant details
- p.Asn55Thr
- ExAC rs781924055
- TOPMed rs781924055
- gnomAD rs781924055
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign