M487T (p.Met487Thr) variant of SLC6A1 (P30531)
M487T (p.Met487Thr) 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 0.61 / 1. The record also includes published literature and structural context.
M487T (p.Met487Thr) variant details
- p.Met487Thr
- rs1559639240
- ClinGen CA351791667
- ClinVar RCV005056435
- Ensembl rs1559639240
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 0.99
- MetaLR 0.51
- MetaSVM 0.25
- PolyPhen-2 0.73
- SIFT 0.00
- EVE 0.66
- 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)