N34I (p.Asn34Ile) variant of SLC2A1 (P11166)
N34I (p.Asn34Ile) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Childhood onset GLUT1 deficiency syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
N34I (p.Asn34Ile) variant details
- p.Asn34Ile
- rs80359812
- ClinGen CA018991
- ClinVar RCV000030921
- UniProt VAR 054755
- Pathogenic
- Childhood onset GLUT1 deficiency syndrome 2
- 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 (Childhood onset GLUT1 deficiency syndrome 2)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Structural context available
- Cited in: GLUT-1 deficiency without epilepsy--an exceptional case. (PMID 14605501)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)