A12G (p.Ala12Gly) variant of POLG (DNA polymerase subunit gamma-1)
A12G (p.Ala12Gly) 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.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- TOPMed rs1438282314
- gnomAD rs1438282314
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available