K11M (p.Lys11Met) variant of APC (Adenomatous polyposis coli protein)
K11M (p.Lys11Met) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K11M (p.Lys11Met) variant details
- p.Lys11Met
- Ensembl rs2149737590
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.47
- MetaLR 0.10
- MetaSVM -0.90
- CADD 27.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available