D52Y (p.Asp52Tyr) variant of SLC6A1 (P30531)
D52Y (p.Asp52Tyr) 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 0.76 / 1. The record also includes published literature and structural context.
D52Y (p.Asp52Tyr) variant details
- p.Asp52Tyr
- rs1574891085
- ClinGen CA351788291
- ClinVar RCV005056581
- Ensembl rs1574891085
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.99
- MetaLR 0.69
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)