A288T (p.Ala288Thr) variant of SLC6A1 (P30531)
A288T (p.Ala288Thr) 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 0.89 / 1. The record also includes published literature and structural context.
A288T (p.Ala288Thr) variant details
- p.Ala288Thr
- rs2124924976
- ClinGen CA351790283
- ClinVar RCV005057851
- Ensembl rs2124924976
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Likely pathogenic (in MAE)
- UniProt: Likely pathogenic (in MAE)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)