Y293H (p.Tyr293His) variant of SLC2A1 (P11166)
Y293H (p.Tyr293His) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GLUT1 deficiency syndrome 1, autosomal recessive; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
Y293H (p.Tyr293His) variant details
- p.Tyr293His
- rs2124448410
- ClinGen CA339956935
- ClinVar RCV001768376
- ClinVar RCV001868746
- Conflicting interpretations
- GLUT1 deficiency syndrome 1, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.95
- MetaLR 0.77
- MetaSVM 0.78
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.96
- ClinVar: Conflicting classifications of pathogenicity (GLUT1 deficiency syndrome 1, autosomal recessive; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available