R81R (p.Arg81Arg) variant of POLH (DNA polymerase eta)
R81R (p.Arg81Arg) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R81R (p.Arg81Arg) variant details
- p.Arg81Arg
- rs1303520413
- gnomAD 6-43583112-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 12.70
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available