Q25E (p.Gln25Glu) variant of POLH (DNA polymerase eta)
Q25E (p.Gln25Glu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q25E (p.Gln25Glu) variant details
- p.Gln25Glu
- gnomAD rs1343571221
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.02
- CADD 15.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available