Q12K (p.Gln12Lys) variant of APC (Adenomatous polyposis coli protein)
Q12K (p.Gln12Lys) 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 0.19 / 1. The record also includes structural context.
Q12K (p.Gln12Lys) variant details
- p.Gln12Lys
- Ensembl rs2149737617
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- ESM-1b 0.00
- AlphaMissense 0.84
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available