L14F (p.Leu14Phe) variant of MET (P08581)
L14F (p.Leu14Phe) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal cell carcinoma; Hepatocellular carcinoma; Papillary renal cell carcinoma t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs763344951
- ClinGen CA334069
- cosmic curated COSV99041
- ClinVar RCV000561286
- Conflicting interpretations
- Renal cell carcinoma; Hepatocellular carcinoma; Papillary renal cell carcinoma t
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- MetaLR 0.23
- MetaSVM -0.79
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Conflicting classifications of pathogenicity (Renal cell carcinoma; Hepatocellular carcinoma; Papillary renal)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)