G111V (p.Gly111Val) variant of SLC2A1 (P11166)
G111V (p.Gly111Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Encephalopathy due to GLUT1 deficiency; Dystonia 9. 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.
G111V (p.Gly111Val) variant details
- p.Gly111Val
- rs1399284513
- ClinGen CA339961190
- ClinVar RCV001100034
- ClinVar RCV001102022
- Uncertain significance
- Encephalopathy due to GLUT1 deficiency; Dystonia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.90
- CADD 25.90
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Uncertain significance (Encephalopathy due to GLUT1 deficiency; Dystonia 9)
- 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)