E82D (p.Glu82Asp) variant of POLH (DNA polymerase eta)
E82D (p.Glu82Asp) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E82D (p.Glu82Asp) variant details
- p.Glu82Asp
- 1000Genomes rs77759052
- ExAC rs77759052
- TOPMed rs77759052
- gnomAD rs77759052
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.33
- ESM-1b 0.65
- AlphaMissense 0.50
- MetaLR 0.60
- MetaSVM 0.08
- CADD 24.40
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available