P485L (p.Pro485Leu) variant of SLC2A1 (P11166)
P485L (p.Pro485Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epileptic encephalopathy; Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P485L (p.Pro485Leu) variant details
- p.Pro485Leu
- rs1159593580
- ClinGen CA339952336
- ClinVar RCV001091410
- ClinVar RCV001862694
- Pathogenic/Likely pathogenic
- not provided; Epileptic encephalopathy; Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.33
- CADD 21.70
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epileptic encephalopathy; Encephalopathy due to GL)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. (PMID 20129935)
- Cited in: Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs. (PMID 30197081)