G45R (p.Gly45Arg) variant of POLH (DNA polymerase eta)
G45R (p.Gly45Arg) in POLH (DNA polymerase eta) 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 0.96 / 1. The record also includes structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- ExAC rs756148837
- TOPMed rs756148837
- gnomAD rs756148837
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- ESM-1b 1.00
- AlphaMissense 0.92
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available