Q12L (p.Gln12Leu) variant of APC (Adenomatous polyposis coli protein)
Q12L (p.Gln12Leu) 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 0.19 / 1. The record also includes structural context.
Q12L (p.Gln12Leu) variant details
- p.Gln12Leu
- Ensembl rs1754783765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- ESM-1b 0.00
- AlphaMissense 0.91
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available