F57S (p.Phe57Ser) variant of POLH (DNA polymerase eta)
F57S (p.Phe57Ser) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F57S (p.Phe57Ser) variant details
- p.Phe57Ser
- rs1561897585
- gnomAD 6-43583035-G-GCGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available