E25K (p.Glu25Lys) variant of MET (P08581)
E25K (p.Glu25Lys) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs2116579525
- ClinGen CA368968278
- ClinVar RCV002380523
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.11
- MetaLR 0.28
- MetaSVM -0.68
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)