S63Y (p.Ser63Tyr) variant of POLG (DNA polymerase subunit gamma-1)
S63Y (p.Ser63Tyr) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S63Y (p.Ser63Tyr) variant details
- p.Ser63Tyr
- TOPMed rs960812250
- gnomAD rs960812250
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available