R29G (p.Arg29Gly) variant of TSC2 (Tuberin)
R29G (p.Arg29Gly) 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 0.39 / 1. The record also includes published literature and structural context.
R29G (p.Arg29Gly) variant details
- p.Arg29Gly
- rs752830086
- ClinGen CA394301346
- ClinVar RCV002838297
- ExAC rs752830086
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.19
- MetaLR 0.22
- MetaSVM -0.71
- PolyPhen-2 0.16
- SIFT 0.16
- MutPred 0.15
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)