R92Q (p.Arg92Gln) variant of SLC2A1 (P11166)
R92Q (p.Arg92Gln) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Epilepsy, idiopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R92Q (p.Arg92Gln) variant details
- p.Arg92Gln
- rs779073410
- ClinGen CA803588
- ClinVar RCV003038116
- ClinVar RCV003410036
- Conflicting interpretations
- Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Epilepsy, idiopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.92
- AlphaMissense 0.89
- MetaLR 0.87
- MetaSVM 1.04
- CADD 34.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; E)
- EBI: Likely pathogenic (in GLUT1DS2)
- UniProt: Likely pathogenic (in GLUT1DS2)
- 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)