I17V (p.Ile17Val) variant of TSC2 (Tuberin)
I17V (p.Ile17Val) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- rs1274194851
- ClinGen CA394301016
- ClinVar RCV001023388
- ClinVar RCV001337454
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.54
- EVE 0.09
- 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)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)