G53V (p.Gly53Val) variant of SLC2A1 (P11166)
G53V (p.Gly53Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, idiopathic generalized, susceptibility to, 12; Hereditary cryohydrocyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G53V (p.Gly53Val) variant details
- p.Gly53Val
- rs796053246
- ClinGen CA318423
- ClinVar RCV000189350
- ClinVar RCV001038415
- Uncertain significance
- Epilepsy, idiopathic generalized, susceptibility to, 12; Hereditary cryohydrocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.33
- CADD 12.20
- PolyPhen-2 0.22
- SIFT 0.02
- ClinVar: Uncertain significance (Epilepsy, idiopathic generalized, susceptibility to, 12; Heredit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)