K43E (p.Lys43Glu) variant of POLH (DNA polymerase eta)
K43E (p.Lys43Glu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K43E (p.Lys43Glu) variant details
- p.Lys43Glu
- ExAC rs750532920
- TOPMed rs750532920
- gnomAD rs750532920
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.10
- MetaSVM -1.00
- CADD 28.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available