E19Q (p.Glu19Gln) variant of APC (Adenomatous polyposis coli protein)
E19Q (p.Glu19Gln) in APC (Adenomatous polyposis coli protein) 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 0.34 / 1. The record also includes structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- TOPMed rs1754786861
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.35
- ESM-1b 0.34
- AlphaMissense 0.92
- MetaLR 0.18
- MetaSVM -0.84
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available