G1595R (p.Gly1595Arg) variant of TSC2 (Tuberin)
G1595R (p.Gly1595Arg) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G1595R (p.Gly1595Arg) variant details
- p.Gly1595Arg
- rs45517369
- ClinGen CA021000
- ClinVar RCV000042724
- ClinVar RCV001508405
- Pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- MutPred 0.87
- ClinVar: Pathogenic (Tuberous sclerosis 2)
- EBI: Pathogenic
- UniProt: 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)