Q45L (p.Gln45Leu) variant of POLG (DNA polymerase subunit gamma-1)
Q45L (p.Gln45Leu) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
Q45L (p.Gln45Leu) variant details
- p.Gln45Leu
- 1000Genomes rs201016638
- TOPMed rs201016638
- gnomAD rs201016638
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Structural context available