A31V (p.Ala31Val) variant of TSC2 (Tuberin)
A31V (p.Ala31Val) 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 0.36 / 1. The record also includes published literature and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs1567380741
- ClinGen CA394301412
- ClinVar RCV000700683
- ClinVar RCV004948613
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- AlphaMissense 0.09
- MetaLR 0.25
- MetaSVM -0.72
- PolyPhen-2 0.04
- SIFT 0.10
- EVE 0.21
- 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)