L16V (p.Leu16Val) variant of RET (P07949)
L16V (p.Leu16Val) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs1309896929
- ClinGen CA376768081
- ClinVar RCV004524677
- ClinVar RCV006488806
- Uncertain significance
- Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.08
- MetaLR 0.83
- MetaSVM 0.34
- PolyPhen-2 0.01
- SIFT 0.13
- MutPred 0.31
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2; Hereditary cancer-predispo)
- EBI: Likely benign
- UniProt: Likely benign
- 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)