V6L (p.Val6Leu) variant of MET (P08581)
V6L (p.Val6Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- rs1395233386
- TOPMed rs1395233386
- gnomAD rs1395233386
- ClinGen CA368968170
- Uncertain significance
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- MetaLR 0.23
- MetaSVM -0.81
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.44
- ClinVar: Uncertain significance (Renal cell carcinoma; Hereditary cancer-predisposing syndrome; n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)