E22* (p.Glu22Ter) variant of POLH (DNA polymerase eta)
E22* (p.Glu22Ter) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- gnomAD 6-43582383-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available