R50L (p.Arg50Leu) variant of SLC6A1 (P30531)
R50L (p.Arg50Leu) 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 0.36 / 1. The record also includes published literature and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- rs766945941
- ClinGen CA351788279
- ClinVar RCV003444733
- ExAC rs766945941
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.30
- MetaLR 0.33
- MetaSVM -0.46
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.12
- ClinVar: Likely pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)