I56F (p.Ile56Phe) variant of PTPN11 (Q06124)
I56F (p.Ile56Phe) in PTPN11 (Q06124) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
I56F (p.Ile56Phe) variant details
- p.Ile56Phe
- cosmic curated COSV10069
- TOPMed rs397507504
- gnomAD rs397507504
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available