R400H (p.Arg400His) variant of SLC2A1 (P11166)
R400H (p.Arg400His) 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; Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R400H (p.Arg400His) variant details
- p.Arg400His
- rs776095655
- ClinGen CA10602778
- ClinVar RCV000364606
- ClinVar RCV000678305
- Pathogenic/Likely pathogenic
- not provided; Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (not provided; Childhood onset GLUT1 deficiency syndrome 2; Encep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)