A357V (p.Ala357Val) variant of SLC6A1 (P30531)
A357V (p.Ala357Val) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A357V (p.Ala357Val) variant details
- p.Ala357Val
- rs1553689859
- ClinGen CA351790754
- cosmic curated COSV10959
- ClinVar RCV001092969
- Pathogenic
- SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.72
- CADD 27.00
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Pathogenic (SLC6A1-related disorder; Epilepsy with myoclonic atonic seizures)
- 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)