T46M (p.Thr46Met) variant of SLC6A1 (P30531)
T46M (p.Thr46Met) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T46M (p.Thr46Met) variant details
- p.Thr46Met
- rs762550927
- ClinGen CA2254790
- cosmic curated COSV99822
- ClinVar RCV001774736
- Conflicting interpretations
- not provided; Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.26
- MetaLR 0.34
- MetaSVM -0.41
- PolyPhen-2 0.44
- SIFT 0.19
- EVE 0.30
- ClinVar: Conflicting classifications of pathogenicity (not provided; Epilepsy with myoclonic atonic seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)