L30P (p.Leu30Pro) variant of MET (P08581)
L30P (p.Leu30Pro) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- rs1797069603
- ClinGen CA368968316
- ClinVar RCV003033973
- ClinVar RCV005675093
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.19
- MetaLR 0.34
- MetaSVM -0.62
- CADD 19.80
- PolyPhen-2 0.83
- SIFT 0.56
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Renal cell carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)