R223P (p.Arg223Pro) variant of SLC2A1 (P11166)
R223P (p.Arg223Pro) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as risk factor 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 0.30 / 1. The record also includes published literature and structural context.
R223P (p.Arg223Pro) variant details
- p.Arg223Pro
- rs397514564
- ClinGen CA019242
- ClinVar RCV000032904
- UniProt VAR 065215
- risk factor
- Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -1.02
- PolyPhen-2 0.01
- SIFT 0.25
- EVE 0.08
- ClinVar: risk factor (Epilepsy, idiopathic generalized, susceptibility to, 12)
- EBI: Pathogenic (in EIG12)
- UniProt: Pathogenic (in EIG12)
- Structural context available
- Cited in: Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. (PMID 19798636)
- Cited in: Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. (PMID 20574033)