Q5* (p.Gln5Ter) variant of POLH (DNA polymerase eta)
Q5* (p.Gln5Ter) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- gnomAD 6-43582332-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available