P9L (p.Pro9Leu) variant of MET (P08581)
P9L (p.Pro9Leu) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs1355886011
- ClinGen CA368968189
- ClinVar RCV001303661
- ClinVar RCV005660094
- Uncertain significance
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.21
- MetaLR 0.49
- MetaSVM -0.06
- CADD 21.60
- PolyPhen-2 0.78
- SIFT 0.25
- ClinVar: Uncertain significance (Renal cell carcinoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)