G314S (p.Gly314Ser) variant of SLC2A1 (P11166)
G314S (p.Gly314Ser) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Dystonia 9; Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
G314S (p.Gly314Ser) variant details
- p.Gly314Ser
- rs121909739
- ClinGen CA019364
- ClinVar RCV000017493
- ClinVar RCV000153967
- Pathogenic
- not provided; Dystonia 9; Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.80
- MetaLR 0.68
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (not provided; Dystonia 9; Encephalopathy due to GLUT1 deficiency)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Structural context available
- Cited in: GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. (PMID 18451999)
- Cited in: Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. (PMID 20574033)