Q79Q (p.Gln79Gln) variant of POLH (DNA polymerase eta)
Q79Q (p.Gln79Gln) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q79Q (p.Gln79Gln) variant details
- p.Gln79Gln
- rs1175199526
- gnomAD 6-43583106-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 16.80
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available