V328L (p.Val328Leu) variant of SLC2A1 (P11166)
V328L (p.Val328Leu) 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 0.50 / 1. The record also includes structural context.
V328L (p.Val328Leu) variant details
- p.Val328Leu
- rs796053255
- ClinGen CA318451
- ClinVar RCV000189368
- Ensembl rs796053255
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.90
- MetaLR 0.47
- MetaSVM -0.08
- PolyPhen-2 0.33
- SIFT 0.00
- EVE 0.48
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available