M1V (p.Met1Val) variant of SLC2A1 (P11166)
M1V (p.Met1Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dystonia 9; Encephalopathy due to GLUT1 deficiency. The record also includes variant effect predictions, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2124478725
- ClinGen CA339965906
- ClinVar RCV002246719
- ClinVar RCV002290852
- Pathogenic
- Dystonia 9; Encephalopathy due to GLUT1 deficiency
- Missense
- MetaLR 0.49
- MetaSVM -0.24
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.52
- ClinVar: Pathogenic (Dystonia 9; Encephalopathy due to GLUT1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)