A2T (p.Ala2Thr) variant of TSC2 (Tuberin)
A2T (p.Ala2Thr) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs769400464
- ClinGen CA394300433
- ClinVar RCV002635295
- ExAC rs769400464
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.13
- MetaLR 0.80
- MetaSVM 0.65
- PolyPhen-2 0.99
- SIFT 0.41
- MutPred 0.20
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Benign
- UniProt: Benign
- 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)