W40L (p.Trp40Leu) variant of POLE (Q07864)
W40L (p.Trp40Leu) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W40L (p.Trp40Leu) variant details
- p.Trp40Leu
- Ensembl rs1565981653
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available