T295M (p.Thr295Met) variant of SLC2A1 (P11166)
T295M (p.Thr295Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLUT1 deficiency syndrome; not provided; Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
T295M (p.Thr295Met) variant details
- p.Thr295Met
- rs80359823
- ClinGen CA277218
- ClinVar RCV000189397
- ClinVar RCV000193872
- Pathogenic
- GLUT1 deficiency syndrome; not provided; Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 0.69
- MetaLR 0.80
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (GLUT1 deficiency syndrome; not provided; Encephalopathy due to G)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. (PMID 15622525)
- Cited in: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. (PMID 20129935)