E22K (p.Glu22Lys) variant of POLH (DNA polymerase eta)
E22K (p.Glu22Lys) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- TOPMed rs1211647469
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- ESM-1b 1.00
- AlphaMissense 0.91
- Structural context available