L11V (p.Leu11Val) variant of TSC2 (Tuberin)
L11V (p.Leu11Val) in TSC2 (Tuberin) 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 0.46 / 1. The record also includes published literature and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs978517404
- ClinGen CA394300746
- ClinVar RCV003297080
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.17
- MetaLR 0.30
- MetaSVM -0.59
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.79
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)