E53K (p.Glu53Lys) variant of POLH (DNA polymerase eta)
E53K (p.Glu53Lys) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- TOPMed rs1764457980
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- ESM-1b 1.00
- AlphaMissense 0.69
- Structural context available