G27D (p.Gly27Asp) variant of SLC2A1 (P11166)
G27D (p.Gly27Asp) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- rs794727283
- ClinGen CA019329
- ClinVar RCV000175828
- ClinVar RCV004794372
- Conflicting interpretations
- Inborn genetic diseases; not provided; Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Encephalopathy due to GLU)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)