E57K (p.Glu57Lys) variant of INSR (Insulin receptor)
E57K (p.Glu57Lys) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- rs886044001
- ClinGen CA10606213
- ClinVar RCV000326627
- TOPMed rs886044001
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available