G38C (p.Gly38Cys) variant of TSC1 (Hamartin)
G38C (p.Gly38Cys) 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 0.82 / 1. The record also includes published literature and structural context.
G38C (p.Gly38Cys) variant details
- p.Gly38Cys
- rs1846929239
- ClinGen CA375375229
- ClinVar RCV001226460
- ClinVar RCV002322096
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.88
- MetaLR 0.79
- MetaSVM 0.71
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.76
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- 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)