L269P (p.Leu269Pro) variant of SLC6A1 (P30531)
L269P (p.Leu269Pro) 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 0.50 / 1. The record also includes published literature and structural context.
L269P (p.Leu269Pro) variant details
- p.Leu269Pro
- rs2124924369
- ClinGen CA351790147
- ClinVar RCV003444245
- Ensembl rs2124924369
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.96
- MetaLR 0.53
- MetaSVM 0.01
- PolyPhen-2 0.99
- SIFT 0.21
- EVE 0.32
- 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)