V13M (p.Val13Met) variant of MET (P08581)
V13M (p.Val13Met) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- rs781777052
- ClinGen CA4447934
- ClinVar RCV000476283
- ClinVar RCV000572036
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.06
- MetaLR 0.24
- MetaSVM -0.62
- CADD 6.29
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Renal cel)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)