F17S (p.Phe17Ser) variant of POLH (DNA polymerase eta)
F17S (p.Phe17Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
F17S (p.Phe17Ser) variant details
- p.Phe17Ser
- 1000Genomes rs551454266
- ExAC rs551454266
- TOPMed rs551454266
- gnomAD rs551454266
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.82
- MetaSVM 0.90
- CADD 29.80
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available