R44Q (p.Arg44Gln) variant of SLC6A1 (P30531)
R44Q (p.Arg44Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R44Q (p.Arg44Gln) variant details
- p.Arg44Gln
- rs794726859
- ClinGen CA200217
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55116
- Pathogenic
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures; not provided)
- 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)