I56S (p.Ile56Ser) variant of PTPN11 (Q06124)
I56S (p.Ile56Ser) in PTPN11 (Q06124) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
I56S (p.Ile56Ser) variant details
- p.Ile56Ser
- TOPMed rs1052382672
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available