N58I (p.Asn58Ile) variant of PTPN11 (Q06124)
N58I (p.Asn58Ile) in PTPN11 (Q06124) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in NS1. The record also includes structural context.
N58I (p.Asn58Ile) variant details
- p.Asn58Ile
- ExAC rs751437780
- TOPMed rs751437780
- gnomAD rs751437780
- Likely pathogenic
- in NS1
- Missense
- EBI: Likely pathogenic (in NS1)
- UniProt: Likely pathogenic (in NS1)
- Structural context available