R153S (p.Arg153Ser) variant of SLC2A1 (P11166)
R153S (p.Arg153Ser) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
R153S (p.Arg153Ser) variant details
- p.Arg153Ser
- rs1643479461
- ClinGen CA339960552
- ClinVar RCV003631695
- Likely pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.97
- MetaLR 0.84
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Likely pathogenic (in GLUT1DS2)
- UniProt: Likely pathogenic (in GLUT1DS2)
- Structural context available