I17S (p.Ile17Ser) variant of TSC2 (Tuberin)
I17S (p.Ile17Ser) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis syndrome; Tuberous sclerosis 2; Hereditary cancer-predisposin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
I17S (p.Ile17Ser) variant details
- p.Ile17Ser
- rs2548349184
- ClinGen CA394301043
- ClinVar RCV003297082
- ClinVar RCV003512209
- Uncertain significance
- Tuberous sclerosis syndrome; Tuberous sclerosis 2; Hereditary cancer-predisposin
- Missense
- Variant Prioritization Score for Impact Estimate 0.0739
- REVEL 0.05
- CADD 4.59
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Uncertain significance (Tuberous sclerosis syndrome; Tuberous sclerosis 2; Hereditary ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)