K118E (p.Lys118Glu) variant of PTPN2 (P17706)
K118E (p.Lys118Glu) in PTPN2 (P17706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
K118E (p.Lys118Glu) variant details
- p.Lys118Glu
- TOPMed rs2042646738
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available