I17F (p.Ile17Phe) variant of TSC2 (Tuberin)
I17F (p.Ile17Phe) 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 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
I17F (p.Ile17Phe) variant details
- p.Ile17Phe
- rs1274194851
- ClinGen CA394301032
- ClinVar RCV003513143
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.54
- EVE 0.09
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)