A2V (p.Ala2Val) variant of TSC2 (Tuberin)
A2V (p.Ala2Val) 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 0.71 / 1. The record also includes published literature and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs2084668501
- ClinGen CA394300446
- ClinVar RCV001057284
- ClinVar RCV005502998
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.55
- MetaLR 0.78
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.17
- 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)