G20R (p.Gly20Arg) variant of TSC2 (Tuberin)
G20R (p.Gly20Arg) 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 0.42 / 1. The record also includes published literature and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs1596234105
- ClinGen CA394301128
- cosmic curated COSV10726
- ClinVar RCV001024667
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.56
- MetaLR 0.31
- MetaSVM -0.69
- PolyPhen-2 0.94
- SIFT 0.19
- EVE 0.28
- 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)