G20R (p.Gly20Arg) variant of TSC1 (Hamartin)
G20R (p.Gly20Arg) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs2132295199
- ClinGen CA375375355
- ClinVar RCV001889352
- ClinVar RCV005503227
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.07
- MetaLR 0.25
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.89
- EVE 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- EBI: Likely benign
- UniProt: Likely benign
- 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)