E329K (p.Glu329Lys) variant of SLC2A1 (P11166)
E329K (p.Glu329Lys) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
E329K (p.Glu329Lys) variant details
- p.Glu329Lys
- rs2124448063
- ClinGen CA339956097
- ClinVar RCV001376893
- ClinVar RCV001647141
- Pathogenic/Likely pathogenic
- not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.79
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 defi)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)