C900Y (p.Cys900Tyr) variant of TSC2 (Tuberin)
C900Y (p.Cys900Tyr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
C900Y (p.Cys900Tyr) variant details
- p.Cys900Tyr
- rs2089323124
- ClinGen CA394279431
- ClinVar RCV001963015
- TOPMed rs2089323124
- Pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Tuberous sclerosis 2)
- EBI: Pathogenic
- UniProt: 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)