Y52Y (p.Tyr52Tyr) variant of POLH (DNA polymerase eta)
Y52Y (p.Tyr52Tyr) in POLH (DNA polymerase eta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Y52Y (p.Tyr52Tyr) variant details
- p.Tyr52Tyr
- rs762156627
- gnomAD 6-43583025-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.03
- Population evidence available
- Structural context available
- Literature evidence available