T59S (p.Thr59Ser) variant of PTPN11 (Q06124)
T59S (p.Thr59Ser) in PTPN11 (Q06124) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NS1. The record also includes structural context.
T59S (p.Thr59Ser) variant details
- p.Thr59Ser
- TOPMed rs886043790
- gnomAD rs886043790
- Pathogenic
- in NS1
- Missense
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available