S324L (p.Ser324Leu) variant of SLC2A1 (P11166)
S324L (p.Ser324Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; GLUT1 deficiency syndrome 1, autosomal re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S324L (p.Ser324Leu) variant details
- p.Ser324Leu
- rs796053253
- ClinGen CA318448
- ClinVar RCV000189366
- ClinVar RCV000458906
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; GLUT1 deficiency syndrome 1, autosomal re
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.93
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; GLUT1 deficiency syndrome)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. (PMID 19798636)
- Cited in: Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. (PMID 20574033)