M1R (p.Met1Arg) variant of SLC2A1 (P11166)
M1R (p.Met1Arg) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Encephalopathy due to GLUT1 deficiency. The record also includes variant effect predictions, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1553157935
- ClinGen CA339965901
- ClinVar RCV003479918
- Pathogenic
- Encephalopathy due to GLUT1 deficiency
- Missense
- MetaLR 0.49
- MetaSVM -0.20
- PolyPhen-2 0.12
- SIFT 0.01
- MutPred 0.59
- ClinVar: Pathogenic (Encephalopathy due to GLUT1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)