Y293S (p.Tyr293Ser) variant of SLC2A1 (P11166)
Y293S (p.Tyr293Ser) 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 0.91 / 1. The record also includes structural context.
Y293S (p.Tyr293Ser) variant details
- p.Tyr293Ser
- rs2124448402
- ClinGen CA339956933
- ClinVar RCV001966816
- Ensembl rs2124448402
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available