L7R (p.Leu7Arg) variant of ALK (ALK tyrosine kinase receptor)
L7R (p.Leu7Arg) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- rs1351584977
- ClinGen CA346590834
- ClinVar RCV003165040
- TOPMed rs1351584977
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.26
- MetaLR 0.29
- MetaSVM -0.86
- CADD 19.80
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)