E243V (p.Glu243Val) variant of SLC2A1 (P11166)
E243V (p.Glu243Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GLUT1 deficiency syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
E243V (p.Glu243Val) variant details
- p.Glu243Val
- rs2124449030
- ClinGen CA339958092
- ClinVar RCV002273212
- UniProt VAR 076232
- Likely pathogenic
- GLUT1 deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.64
- MetaLR 0.66
- MetaSVM 0.57
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (GLUT1 deficiency syndrome)
- EBI: Pathogenic (in EIG12)
- UniProt: Pathogenic (in EIG12)
- Structural context available
- Cited in: Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. (PMID 23280796)
- Cited in: Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. (PMID 19798636)