R30R (p.Arg30Arg) variant of POLH (DNA polymerase eta)
R30R (p.Arg30Arg) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R30R (p.Arg30Arg) variant details
- p.Arg30Arg
- rs760230871
- gnomAD 6-43582407-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 13.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available