R55R (p.Arg55Arg) variant of POLH (DNA polymerase eta)
R55R (p.Arg55Arg) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R55R (p.Arg55Arg) variant details
- p.Arg55Arg
- rs749096701
- gnomAD 6-43583034-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available