G125A (p.Gly125Ala) variant of SLC2A1 (P11166)
G125A (p.Gly125Ala) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to GLUT1 deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G125A (p.Gly125Ala) variant details
- p.Gly125Ala
- rs781521534
- ClinGen CA803549
- ClinVar RCV001987841
- ClinVar RCV003442973
- Uncertain significance
- Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to GLUT1 deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.90
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)