F422L (p.Phe422Leu) variant of SLC2A1 (P11166)
F422L (p.Phe422Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1, autosomal r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
F422L (p.Phe422Leu) variant details
- p.Phe422Leu
- rs2124446209
- ClinGen CA339953627
- ClinVar RCV001950465
- Ensembl rs2124446209
- Pathogenic
- Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1, autosomal r
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available