Q20K (p.Gln20Lys) variant of MET (P08581)
Q20K (p.Gln20Lys) 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 0.41 / 1. The record also includes published literature and structural context.
Q20K (p.Gln20Lys) variant details
- p.Gln20Lys
- rs2116579143
- ClinGen CA368968248
- ClinVar RCV003176387
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- AlphaMissense 0.10
- MetaLR 0.36
- MetaSVM -0.56
- PolyPhen-2 0.05
- SIFT 0.04
- EVE 0.36
- 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)