Q68R (p.Gln68Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q68R (p.Gln68Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q68R (p.Gln68Arg) variant details
- p.Gln68Arg
- TOPMed rs1171419088
- gnomAD rs1171419088
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.45
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.7e-05)
- Structural context available