Y60C (p.Tyr60Cys) variant of SLC6A1 (P30531)
Y60C (p.Tyr60Cys) 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 0.45 / 1. The record also includes published literature and structural context.
Y60C (p.Tyr60Cys) variant details
- p.Tyr60Cys
- rs2124905507
- ClinGen CA351788349
- ClinVar RCV005062998
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.94
- MetaLR 0.41
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.37
- EVE 0.27
- 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)