S30W (p.Ser30Trp) variant of POLE (Q07864)
S30W (p.Ser30Trp) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S30W (p.Ser30Trp) variant details
- p.Ser30Trp
- TOPMed rs997586826
- gnomAD rs997586826
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available