Q5E (p.Gln5Glu) variant of POLH (DNA polymerase eta)
Q5E (p.Gln5Glu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q5E (p.Gln5Glu) variant details
- p.Gln5Glu
- gnomAD rs532583227
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.00
- CADD 19.20
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available