M1T (p.Met1Thr) variant of SLC2A1 (P11166)
M1T (p.Met1Thr) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SLC2A1-related disorder; Encephalopathy due to GLUT1 deficiency; GLUT1 deficienc. The record also includes variant effect predictions, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1553157935
- ClinGen CA339965902
- ClinVar RCV000578988
- ClinVar RCV001249305
- Pathogenic/Likely pathogenic
- SLC2A1-related disorder; Encephalopathy due to GLUT1 deficiency; GLUT1 deficienc
- Missense
- MetaLR 0.49
- MetaSVM -0.20
- PolyPhen-2 0.12
- SIFT 0.01
- MutPred 0.59
- ClinVar: Pathogenic/Likely pathogenic (SLC2A1-related disorder; Encephalopathy due to GLUT1 deficiency;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)