M487I (p.Met487Ile) variant of SLC6A1 (P30531)
M487I (p.Met487Ile) 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 0.50 / 1. The record also includes published literature and structural context.
M487I (p.Met487Ile) variant details
- p.Met487Ile
- rs1698021866
- ClinGen CA351791669
- ClinVar RCV005057133
- Ensembl rs1698021866
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM -0.02
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.52
- 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)