A275T (p.Ala275Thr) variant of SLC2A1 (P11166)
A275T (p.Ala275Thr) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 defi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
A275T (p.Ala275Thr) variant details
- p.Ala275Thr
- rs121909740
- ClinGen CA019335
- ClinVar RCV000017494
- ClinVar RCV000147534
- Pathogenic/Likely pathogenic
- not provided; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 defi
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- AlphaMissense 0.75
- MetaLR 0.59
- MetaSVM 0.37
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.44
- ClinVar: Pathogenic/Likely pathogenic (not provided; Encephalopathy due to GLUT1 deficiency; Childhood)
- 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: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)