P73R (p.Pro73Arg) variant of POLG (DNA polymerase subunit gamma-1)
P73R (p.Pro73Arg) 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 0.70 / 1. The record also includes population frequency data and structural context.
P73R (p.Pro73Arg) variant details
- p.Pro73Arg
- TOPMed rs199760610
- gnomAD rs199760610
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.73
- CADD 26.60
- PolyPhen-2 0.62
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available