E18* (p.Glu18Ter) variant of POLE (Q07864)
E18* (p.Glu18Ter) in POLE (Q07864) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- rs1555231403
- ClinGen CA387373329
- cosmic curated COSV10962
- ClinVar RCV002343364
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.15
- MetaLR 0.01
- MetaSVM -0.89
- CADD 38.00
- PolyPhen-2 0.04
- SIFT 0.71
- 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)