R223W (p.Arg223Trp) variant of SLC2A1 (P11166)
R223W (p.Arg223Trp) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R223W (p.Arg223Trp) variant details
- p.Arg223Trp
- rs796053248
- ClinGen CA318433
- ClinVar RCV000189355
- ClinVar RCV000546488
- Pathogenic
- Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.61
- CADD 29.60
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic (Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to,)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. (PMID 20129935)
- Cited in: A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. (PMID 25982116)