Q52E (p.Gln52Glu) variant of POLG (DNA polymerase subunit gamma-1)
Q52E (p.Gln52Glu) 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.
Q52E (p.Gln52Glu) variant details
- p.Gln52Glu
- ESP rs376683989
- ExAC rs376683989
- TOPMed rs376683989
- gnomAD rs376683989
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available