G10R (p.Gly10Arg) variant of TSC2 (Tuberin)
G10R (p.Gly10Arg) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2; 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.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- rs2150970435
- ClinGen CA394300724
- ClinVar RCV003628501
- ClinVar RCV004676253
- Uncertain significance
- Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.22
- MetaLR 0.37
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (Tuberous sclerosis 2; 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)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)