E14G (p.Glu14Gly) variant of APC (Adenomatous polyposis coli protein)
E14G (p.Glu14Gly) in APC (Adenomatous polyposis coli protein) 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 0.86 / 1. The record also includes structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- Ensembl rs2149737706
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- ESM-1b 0.93
- AlphaMissense 0.73
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available