K43* (p.Lys43Ter) variant of POLH (DNA polymerase eta)
K43* (p.Lys43Ter) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
K43* (p.Lys43Ter) variant details
- p.Lys43Ter
- ExAC rs750532920
- TOPMed rs750532920
- gnomAD rs750532920
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 40.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available