L75S (p.Leu75Ser) variant of POLH (DNA polymerase eta)
L75S (p.Leu75Ser) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L75S (p.Leu75Ser) variant details
- p.Leu75Ser
- gnomAD 6-43583090-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 29.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available