E18K (p.Glu18Lys) variant of POLE (Q07864)
E18K (p.Glu18Lys) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- rs1555231403
- ClinGen CA387373333
- cosmic curated COSV57675
- ClinVar RCV003656361
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.03
- AlphaMissense 0.15
- MetaLR 0.01
- MetaSVM -0.89
- CADD 16.20
- PolyPhen-2 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)