L71Y (p.Leu71Tyr) variant of POLH (DNA polymerase eta)
L71Y (p.Leu71Tyr) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L71Y (p.Leu71Tyr) variant details
- p.Leu71Tyr
- gnomAD 6-43583079-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available