L278P (p.Leu278Pro) variant of SLC2A1 (P11166)
L278P (p.Leu278Pro) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
L278P (p.Leu278Pro) variant details
- p.Leu278Pro
- rs2124448851
- ClinGen CA339957314
- ClinVar RCV001382607
- Ensembl rs2124448851
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.40
- PolyPhen-2 0.52
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available