P58S (p.Pro58Ser) variant of SLC2A1 (P11166)
P58S (p.Pro58Ser) 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; Dystonia 9; GLUT1 defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- rs765479065
- ClinGen CA803602
- ClinVar RCV000648090
- ClinVar RCV001096619
- Uncertain significance
- Epilepsy, idiopathic generalized, susceptibility to, 12; Dystonia 9; GLUT1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.10
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Epilepsy, idiopathic generalized, susceptibility to, 12; Dystoni)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)