T913P (p.Thr913Pro) variant of TSC2 (Tuberin)
T913P (p.Thr913Pro) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
T913P (p.Thr913Pro) variant details
- p.Thr913Pro
- rs772378578
- ClinGen CA394279610
- ClinVar RCV002437540
- ClinVar RCV003512186
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.32
- MetaLR 0.75
- MetaSVM 0.50
- PolyPhen-2 0.98
- SIFT 0.04
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)