T9M (p.Thr9Met) variant of SLC2A1 (P11166)
T9M (p.Thr9Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; Inborn gene. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T9M (p.Thr9Met) variant details
- p.Thr9Met
- rs1570601100
- ClinGen CA339964905
- ClinVar RCV000812775
- ClinVar RCV001731941
- Conflicting interpretations
- Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; Inborn gene
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.77
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)