R51P (p.Arg51Pro) variant of SLC2A1 (P11166)
R51P (p.Arg51Pro) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Childhood onset GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 1, autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
R51P (p.Arg51Pro) variant details
- p.Arg51Pro
- rs201815571
- ClinGen CA339962418
- ClinVar RCV000533560
- ClinVar RCV005410906
- Conflicting interpretations
- Childhood onset GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 1, autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.34
- MetaLR 0.53
- MetaSVM 0.28
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.58
- ClinVar: Conflicting classifications of pathogenicity (Childhood onset GLUT1 deficiency syndrome 2; GLUT1 deficiency sy)
- EBI: Likely pathogenic (in EIG12)
- UniProt: Likely pathogenic (in EIG12)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)