A35E (p.Ala35Glu) variant of POLH (DNA polymerase eta)
A35E (p.Ala35Glu) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A35E (p.Ala35Glu) variant details
- p.Ala35Glu
- gnomAD 6-43582422-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available