Q8L (p.Gln8Leu) variant of APC (Adenomatous polyposis coli protein)
Q8L (p.Gln8Leu) 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 0.23 / 1. The record also includes structural context.
Q8L (p.Gln8Leu) variant details
- p.Gln8Leu
- Ensembl rs1754782964
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- ESM-1b 0.00
- AlphaMissense 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available