N34S (p.Asn34Ser) variant of SLC2A1 (P11166)
N34S (p.Asn34Ser) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- rs80359812
- ClinGen CA339964752
- ClinVar RCV000819798
- ClinVar RCV000995645
- Pathogenic
- not provided; Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.97
- MetaLR 0.72
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (not provided; Childhood onset GLUT1 deficiency syndrome 2; Encep)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. (PMID 15622525)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)