G1595E (p.Gly1595Glu) variant of TSC2 (Tuberin)
G1595E (p.Gly1595Glu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
G1595E (p.Gly1595Glu) variant details
- p.Gly1595Glu
- rs2090782357
- ClinGen CA394307959
- ClinVar RCV003039214
- ClinVar RCV003170912
- Likely pathogenic
- Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- MutPred 0.80
- ClinVar: Likely pathogenic (Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)