T310I (p.Thr310Ile) variant of SLC2A1 (P11166)
T310I (p.Thr310Ile) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to GLUT1 deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
T310I (p.Thr310Ile) variant details
- p.Thr310Ile
- rs80359824
- ClinGen CA21250649
- ClinVar RCV001089897
- ClinVar RCV003446616
- Likely pathogenic
- Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to GLUT1 deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.97
- MetaLR 0.70
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. (PMID 10227690)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)