R458W (p.Arg458Trp) variant of SLC2A1 (P11166)
R458W (p.Arg458Trp) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R458W (p.Arg458Trp) variant details
- p.Arg458Trp
- rs13306758
- ClinGen CA019067
- ClinVar RCV000082868
- ClinVar RCV000423069
- Pathogenic/Likely pathogenic
- Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.85
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to,)
- EBI: Pathogenic (in EIG12)
- UniProt: Pathogenic (in EIG12)
- Population evidence available
- Structural context available
- Cited in: Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. (PMID 23280796)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)