A2E (p.Ala2Glu) variant of SLC6A1 (P30531)
A2E (p.Ala2Glu) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- rs913073947
- ClinGen CA70129819
- ClinVar RCV001548659
- ClinVar RCV005057500
- Conflicting interpretations
- not provided; Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.31
- CADD 25.30
- PolyPhen-2 0.81
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Epilepsy with myoclonic atonic seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)