E36Q (p.Glu36Gln) variant of POLE (Q07864)
E36Q (p.Glu36Gln) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- rs370268888
- ClinGen CA6894444
- ClinVar RCV003228972
- ClinVar RCV005260283
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- AlphaMissense 0.12
- MetaLR 0.01
- MetaSVM -0.93
- CADD 20.90
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)