E36V (p.Glu36Val) variant of POLE (Q07864)
E36V (p.Glu36Val) in POLE (Q07864) 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.
E36V (p.Glu36Val) variant details
- p.Glu36Val
- rs2542197998
- ClinGen CA387370392
- ClinVar RCV003658519
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available