S38T (p.Ser38Thr) variant of POLE (Q07864)
S38T (p.Ser38Thr) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
S38T (p.Ser38Thr) variant details
- p.Ser38Thr
- 1000Genomes rs141424313
- ESP rs141424313
- ExAC rs141424313
- TOPMed rs141424313
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available