M1T (p.Met1Thr) variant of TSC2 (Tuberin)
M1T (p.Met1Thr) 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 0.74 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2084667702
- ClinGen CA394300406
- ClinVar RCV001299467
- ClinVar RCV002437016
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.36
- MetaLR 0.84
- MetaSVM 0.86
- PolyPhen-2 0.87
- SIFT 0.00
- MutPred 0.99
- 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)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)