P505T (p.Pro505Thr) variant of SLC6A1 (P30531)
P505T (p.Pro505Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
P505T (p.Pro505Thr) variant details
- p.Pro505Thr
- rs1698023649
- ClinGen CA351791791
- ClinVar RCV005057732
- Ensembl rs1698023649
- Pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.04
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)