E41K (p.Glu41Lys) variant of SLC2A1 (P11166)
E41K (p.Glu41Lys) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to GLUT1 deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- rs769722007
- ClinGen CA803608
- ClinVar RCV001908714
- ClinVar RCV003446942
- Uncertain significance
- Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to GLUT1 deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.33
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.34
- ClinVar: Uncertain significance (Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)