R1200G (p.Arg1200Gly) variant of TSC2 (Tuberin)
R1200G (p.Arg1200Gly) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R1200G (p.Arg1200Gly) variant details
- p.Arg1200Gly
- rs45438205
- ClinGen CA394289708
- ClinVar RCV002937284
- gnomAD rs45438205
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Pathogenic (in TSC2)
- UniProt: Pathogenic (in TSC2)
- 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)