K17M (p.Lys17Met) variant of APC (Adenomatous polyposis coli protein)
K17M (p.Lys17Met) 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 0.70 / 1. The record also includes population frequency data and structural context.
K17M (p.Lys17Met) variant details
- p.Lys17Met
- Ensembl rs2149737817
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 22.00
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available