S1454I (p.Ser1454Ile) variant of TSC2 (Tuberin)
S1454I (p.Ser1454Ile) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S1454I (p.Ser1454Ile) variant details
- p.Ser1454Ile
- rs758233186
- ClinGen CA050988
- ClinVar RCV001294962
- ClinVar RCV002327632
- Likely pathogenic
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.45
- CADD 16.70
- PolyPhen-2 0.23
- SIFT 0.17
- ClinVar: Likely pathogenic (Tuberous sclerosis 2)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)