A334P (p.Ala334Pro) variant of SLC6A1 (P30531)
A334P (p.Ala334Pro) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 published literature and structural context.
A334P (p.Ala334Pro) variant details
- p.Ala334Pro
- rs749240316
- ClinGen CA200219
- ClinVar RCV003444214
- UniProt VAR 073855
- Pathogenic
- Epilepsy with myoclonic atonic seizures; Epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic (in MAE)
- UniProt: Pathogenic (in MAE)
- Structural context available
- Cited in: Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. (PMID 25865495)
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)