L12F (p.Leu12Phe) variant of MET (P08581)
L12F (p.Leu12Phe) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; Renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- rs764455004
- ClinGen CA4447932
- ClinVar RCV001947130
- ClinVar RCV002334765
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.12
- AlphaMissense 0.08
- MetaLR 0.25
- MetaSVM -0.74
- CADD 20.70
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Renal cel)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)