S6C (p.Ser6Cys) variant of TSC2 (Tuberin)
S6C (p.Ser6Cys) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- rs1555494544
- ClinGen CA394300573
- ClinVar RCV001062131
- ClinVar RCV004678942
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.06
- MetaLR 0.28
- MetaSVM -0.67
- PolyPhen-2 0.04
- SIFT 0.32
- MutPred 0.08
- 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)