R153H (p.Arg153His) variant of SLC2A1 (P11166)
R153H (p.Arg153His) 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; Childhood onset GLUT1 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R153H (p.Arg153His) variant details
- p.Arg153His
- rs794727642
- ClinGen CA019189
- NCI-TCGA Cosmic COSV6528
- ClinVar RCV000178275
- Conflicting interpretations
- GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Conflicting classifications of pathogenicity (Encephalopathy due to GLUT1 deficiency; Epilepsy, idiopathic gen)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Structural context available
- Cited in: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. (PMID 20129935)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)