Q8K (p.Gln8Lys) variant of APC (Adenomatous polyposis coli protein)
Q8K (p.Gln8Lys) 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.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- Ensembl rs1554067110
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- ESM-1b 0.00
- AlphaMissense 0.46
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available