R212H (p.Arg212His) variant of SLC2A1 (P11166)
R212H (p.Arg212His) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R212H (p.Arg212His) variant details
- p.Arg212His
- rs886039517
- ClinGen CA10588297
- ClinVar RCV000255929
- ClinVar RCV001253348
- Pathogenic/Likely pathogenic
- not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.92
- MetaLR 0.71
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 defi)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- 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)