G443D (p.Gly443Asp) variant of SLC6A1 (P30531)
G443D (p.Gly443Asp) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G443D (p.Gly443Asp) variant details
- p.Gly443Asp
- rs1697891755
- ClinGen CA351791348
- ClinVar RCV005056830
- Ensembl rs1697891755
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.94
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)