N34K (p.Asn34Lys) variant of SLC2A1 (P11166)
N34K (p.Asn34Lys) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- rs1570601007
- ClinGen CA339964750
- ClinVar RCV000824820
- Ensembl rs1570601007
- Likely pathogenic
- Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Encephalopathy due to GLUT1 deficiency)
- EBI: Likely pathogenic (in GLUT1DS1)
- UniProt: Likely pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)