P1497L (p.Pro1497Leu) variant of TSC2 (Tuberin)
P1497L (p.Pro1497Leu) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tuberous sclerosis 2. The record also includes published literature and structural context.
P1497L (p.Pro1497Leu) variant details
- p.Pro1497Leu
- rs45497997
- ClinGen CA394302616
- ClinVar RCV001949222
- Ensembl rs45497997
- Pathogenic
- Tuberous sclerosis 2
- Missense
- ClinVar: 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)