E18Q (p.Glu18Gln) variant of POLE (Q07864)
E18Q (p.Glu18Gln) 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 0.31 / 1. The record also includes structural context.
E18Q (p.Glu18Gln) variant details
- p.Glu18Gln
- rs1555231403
- ClinGen CA387373331
- ClinVar RCV003540942
- Ensembl rs1555231403
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.15
- MetaLR 0.01
- MetaSVM -0.89
- PolyPhen-2 0.04
- SIFT 0.71
- MutPred 0.25
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available