L19M (p.Leu19Met) variant of RET (P07949)
L19M (p.Leu19Met) in RET (P07949) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- rs2132499024
- ClinGen CA376768095
- ClinVar RCV002344878
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.31
- MetaLR 0.95
- MetaSVM 1.02
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.23
- 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)