D1590Y (p.Asp1590Tyr) variant of TSC2 (Tuberin)
D1590Y (p.Asp1590Tyr) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D1590Y (p.Asp1590Tyr) variant details
- p.Asp1590Tyr
- rs2090780462
- ClinGen CA394307879
- ClinVar RCV001230052
- ClinVar RCV002339631
- Pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.88
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)