R92W (p.Arg92Trp) variant of SLC2A1 (P11166)
R92W (p.Arg92Trp) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental disorder; Encephalopathy due to GLUT1 deficiency; Childhood onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R92W (p.Arg92Trp) variant details
- p.Arg92Trp
- rs202060209
- ClinGen CA019118
- ClinVar RCV000017499
- ClinVar RCV000426262
- Pathogenic/Likely pathogenic
- Developmental disorder; Encephalopathy due to GLUT1 deficiency; Childhood onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.92
- MetaLR 0.86
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic/Likely pathogenic (Developmental disorder; Encephalopathy due to GLUT1 deficiency;)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Population evidence available
- Structural context available
- Cited in: GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. (PMID 19630075)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)