E22Q (p.Glu22Gln) variant of POLH (DNA polymerase eta)
E22Q (p.Glu22Gln) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- TOPMed rs1211647469
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- ESM-1b 1.00
- AlphaMissense 0.75
- Structural context available