V13L (p.Val13Leu) variant of MET (P08581)
V13L (p.Val13Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs781777052
- ClinGen CA368968208
- cosmic curated COSV59272
- ClinVar RCV002363961
- Uncertain significance
- Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.09
- MetaLR 0.19
- MetaSVM -0.90
- CADD 2.71
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (Renal cell carcinoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- 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)