R44P (p.Arg44Pro) variant of SLC6A1 (P30531)
R44P (p.Arg44Pro) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R44P (p.Arg44Pro) variant details
- p.Arg44Pro
- rs794726859
- ClinGen CA351788240
- ClinVar RCV005056457
- Ensembl rs794726859
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- 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: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic (in MAE)
- UniProt: Pathogenic (in MAE)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)