N34D (p.Asn34Asp) variant of SLC2A1 (P11166)
N34D (p.Asn34Asp) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive; Encephalopathy due to GLUT1 de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
N34D (p.Asn34Asp) variant details
- p.Asn34Asp
- rs587784390
- ClinGen CA018969
- ClinVar RCV000147518
- ClinVar RCV005089715
- Pathogenic/Likely pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive; Encephalopathy due to GLUT1 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- AlphaMissense 0.98
- MetaLR 0.67
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive; Encephalopathy)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- 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)