R89H (p.Arg89His) variant of SLC2A1 (P11166)
R89H (p.Arg89His) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; SLC2A1-rela. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R89H (p.Arg89His) variant details
- p.Arg89His
- rs370031715
- ClinGen CA803589
- ClinVar RCV001965282
- ClinVar RCV003446957
- Uncertain significance
- Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; SLC2A1-rela
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.79
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.14
- ClinVar: Uncertain significance (Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)