E28Q (p.Glu28Gln) variant of APC (Adenomatous polyposis coli protein)
E28Q (p.Glu28Gln) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- rs1754792844
- ClinGen CA16021516
- ClinVar RCV004518486
- Ensembl rs1754792844
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.08
- PolyPhen-2 0.71
- SIFT 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)