E36N (p.Glu36Asn) variant of POLE (Q07864)
E36N (p.Glu36Asn) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E36N (p.Glu36Asn) variant details
- p.Glu36Asn
- rs2542198020
- ClinGen CA2580086131
- ClinVar RCV003658618
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available