A334T (p.Ala334Thr) variant of SLC6A1 (P30531)
A334T (p.Ala334Thr) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epilepsy with myoclonic atonic seizures; Epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A334T (p.Ala334Thr) variant details
- p.Ala334Thr
- rs749240316
- ClinGen CA2255081
- cosmic curated COSV55119
- ClinVar RCV001003582
- Pathogenic/Likely pathogenic
- Epilepsy with myoclonic atonic seizures; Epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.86
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.87
- CADD 28.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy with myoclonic atonic seizures; Epilepsy)
- EBI: Pathogenic (in MAE)
- UniProt: Pathogenic (in MAE)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)