Q68P (p.Gln68Pro) variant of POLG (DNA polymerase subunit gamma-1)
Q68P (p.Gln68Pro) 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 0.39 / 1. The record also includes population frequency data and structural context.
Q68P (p.Gln68Pro) variant details
- p.Gln68Pro
- TOPMed rs1171419088
- gnomAD rs1171419088
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.33
- CADD 25.00
- PolyPhen-2 0.72
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available