E82Q (p.Glu82Gln) variant of POLH (DNA polymerase eta)
E82Q (p.Glu82Gln) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E82Q (p.Glu82Gln) variant details
- p.Glu82Gln
- gnomAD rs1764464098
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.68
- MetaSVM 0.08
- CADD 23.70
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available