M1L (p.Met1Leu) variant of SLC2A1 (P11166)
M1L (p.Met1Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The record also includes variant effect predictions, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2124478725
- ClinGen CA339965904
- ClinVar RCV003516871
- ClinGen CA339965905
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- MetaLR 0.49
- MetaSVM -0.24
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.52
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)