L284P (p.Leu284Pro) variant of SLC2A1 (P11166)
L284P (p.Leu284Pro) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Childhood onset GLUT1 deficiency syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
L284P (p.Leu284Pro) variant details
- p.Leu284Pro
- rs2124448826
- ClinGen CA339957204
- ClinVar RCV001542520
- Ensembl rs2124448826
- Likely pathogenic
- Childhood onset GLUT1 deficiency syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.72
- PolyPhen-2 0.90
- SIFT 0.01
- EVE 0.97
- ClinVar: Likely pathogenic (Childhood onset GLUT1 deficiency syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)