V19L (p.Val19Leu) variant of MET (P08581)
V19L (p.Val19Leu) 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; Renal cell carcinoma; not provided. 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.
V19L (p.Val19Leu) variant details
- p.Val19Leu
- rs1486187704
- ClinGen CA368968241
- ClinVar RCV002300844
- ClinVar RCV004047636
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Renal cell carcinoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.07
- MetaLR 0.23
- MetaSVM -0.81
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Renal cell carcinoma; n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)