G84S (p.Gly84Ser) variant of SLC2A1 (P11166)
G84S (p.Gly84Ser) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cryohydrocytosis with reduced stomatin; Encephalopathy due to GLUT1 d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G84S (p.Gly84Ser) variant details
- p.Gly84Ser
- rs768621727
- ClinGen CA803591
- ClinVar RCV002287274
- ClinVar RCV003097719
- Uncertain significance
- Hereditary cryohydrocytosis with reduced stomatin; Encephalopathy due to GLUT1 d
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.91
- CADD 26.50
- PolyPhen-2 0.65
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cryohydrocytosis with reduced stomatin; Encephalopath)
- 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)