I893T (p.Ile893Thr) variant of TSC2 (Tuberin)
I893T (p.Ile893Thr) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
I893T (p.Ile893Thr) variant details
- p.Ile893Thr
- rs796053491
- ClinGen CA319484
- ClinVar RCV000190005
- ClinVar RCV000644168
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.87
- CADD 28.30
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)