L18M (p.Leu18Met) variant of MET (P08581)
L18M (p.Leu18Met) in MET (P08581) 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 0.45 / 1. The record also includes published literature and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- rs1260001540
- ClinGen CA368968233
- ClinVar RCV003211549
- gnomAD rs1260001540
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM 0.00
- PolyPhen-2 0.54
- SIFT 0.01
- EVE 0.37
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)