R400L (p.Arg400Leu) variant of SLC2A1 (P11166)
R400L (p.Arg400Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R400L (p.Arg400Leu) variant details
- p.Arg400Leu
- rs776095655
- ClinGen CA803328
- ClinVar RCV000648086
- ClinVar RCV003324781
- Pathogenic
- not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.91
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 1.05
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 defi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)