S6G (p.Ser6Gly) variant of TSC2 (Tuberin)
S6G (p.Ser6Gly) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- rs1555494544
- ClinGen CA394300569
- ClinVar RCV000644162
- ClinVar RCV003162913
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.17
- AlphaMissense 0.06
- MetaLR 0.28
- MetaSVM -0.67
- CADD 23.70
- PolyPhen-2 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)