D45E (p.Asp45Glu) variant of SLC6A1 (P30531)
D45E (p.Asp45Glu) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- TOPMed rs1559621800
- gnomAD rs1559621800
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.97
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available