V125M (p.Val125Met) variant of SLC6A1 (P30531)
V125M (p.Val125Met) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V125M (p.Val125Met) variant details
- p.Val125Met
- rs1574893965
- ClinGen CA351788973
- ClinVar RCV005056573
- ClinVar RCV005432432
- Pathogenic
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.77
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.07
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)