D25E (p.Asp25Glu) variant of SLC6A1 (P30531)
D25E (p.Asp25Glu) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- rs142007193
- ClinGen CA70129883
- ClinVar RCV003444813
- ESP rs142007193
- Conflicting interpretations
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.22
- CADD 18.40
- PolyPhen-2 0.12
- SIFT 0.93
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy with myoclonic atonic seizures)
- 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: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)