S9A (p.Ser9Ala) variant of TSC2 (Tuberin)
S9A (p.Ser9Ala) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
S9A (p.Ser9Ala) variant details
- p.Ser9Ala
- rs2150970332
- ClinGen CA394300693
- ClinVar RCV004520803
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.08
- MetaLR 0.30
- MetaSVM -0.51
- PolyPhen-2 0.99
- SIFT 0.09
- EVE 0.35
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)