A56A (p.Ala56Ala) variant of POLH (DNA polymerase eta)
A56A (p.Ala56Ala) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A56A (p.Ala56Ala) variant details
- p.Ala56Ala
- rs1245348611
- gnomAD 6-43583037-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 11.80
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available