L243P (p.Leu243Pro) variant of TSC2 (Tuberin)
L243P (p.Leu243Pro) 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 record also includes published literature and structural context.
L243P (p.Leu243Pro) variant details
- p.Leu243Pro
- rs2151080318
- ClinGen CA394312739
- ClinVar RCV003628481
- Ensembl rs2151080318
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Likely pathogenic
- UniProt: Likely 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)