Q8E (p.Gln8Glu) variant of APC (Adenomatous polyposis coli protein)
Q8E (p.Gln8Glu) 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 0.42 / 1. The record also includes population frequency data and structural context.
Q8E (p.Gln8Glu) variant details
- p.Gln8Glu
- Ensembl rs1554067110
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.17
- MetaSVM -0.85
- CADD 24.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available