R1044T (p.Arg1044Thr) variant of TSC2 (Tuberin)
R1044T (p.Arg1044Thr) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R1044T (p.Arg1044Thr) variant details
- p.Arg1044Thr
- rs397515302
- ClinGen CA394285020
- ClinVar RCV001949419
- Ensembl rs397515302
- Pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.86
- MetaLR 0.87
- MetaSVM 0.92
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.45
- ClinVar: Pathogenic (Tuberous sclerosis 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)