L11V (p.Leu11Val) variant of RET (P07949)
L11V (p.Leu11Val) 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; Multiple endocrine neoplasia, type 2. 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.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs587780812
- ClinGen CA009216
- ClinVar RCV000123319
- ClinVar RCV001019149
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.14
- MetaLR 0.87
- MetaSVM 0.58
- CADD 18.80
- PolyPhen-2 0.21
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)