R29K (p.Arg29Lys) variant of TSC2 (Tuberin)
R29K (p.Arg29Lys) 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; Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
R29K (p.Arg29Lys) variant details
- p.Arg29Lys
- rs1567380695
- ClinGen CA394301347
- ClinVar RCV000693713
- ClinVar RCV006552711
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.32
- MetaLR 0.22
- MetaSVM -0.72
- PolyPhen-2 0.16
- SIFT 0.06
- MutPred 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; 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)