L77del (p.Leu77del) variant of POLH (DNA polymerase eta)
L77del (p.Leu77del) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L77del (p.Leu77del) variant details
- rs1426687865
- gnomAD 6-43583090-ATCT-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 20.00
- Population evidence available
- Structural context available
- Literature evidence available