V6M (p.Val6Met) variant of MET (P08581)
V6M (p.Val6Met) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal cell carcinoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V6M (p.Val6Met) variant details
- p.Val6Met
- rs1395233386
- ClinGen CA368968168
- ClinVar RCV002406302
- ClinVar RCV003097137
- Uncertain significance
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.09
- MetaLR 0.27
- MetaSVM -0.62
- CADD 16.80
- SIFT 0.10
- ClinVar: Uncertain significance (Renal cell carcinoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)