Q57R (p.Gln57Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q57R (p.Gln57Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q57R (p.Gln57Arg) variant details
- p.Gln57Arg
- TOPMed rs916297909
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.17
- CADD 12.60
- PolyPhen-2 0.23
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available