M18L (p.Met18Leu) variant of APC (Adenomatous polyposis coli protein)
M18L (p.Met18Leu) 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 0.24 / 1. The record also includes published literature and structural context.
M18L (p.Met18Leu) variant details
- p.Met18Leu
- rs587782402
- ClinGen CA16021453
- ClinVar RCV003278284
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.06
- MetaSVM -1.07
- PolyPhen-2 0.94
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)