F57I (p.Phe57Ile) variant of POLH (DNA polymerase eta)
F57I (p.Phe57Ile) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
F57I (p.Phe57Ile) variant details
- p.Phe57Ile
- TOPMed rs1764459159
- gnomAD rs1764459159
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.52
- MetaSVM 0.21
- CADD 24.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available