A27T (p.Ala27Thr) variant of TSC1 (Hamartin)
A27T (p.Ala27Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs1847033606
- ClinGen CA375375314
- cosmic curated COSV53771
- ClinVar RCV002419147
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.07
- MetaLR 0.26
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.56
- EVE 0.16
- 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)