V342M (p.Val342Met) variant of SLC6A1 (P30531)
V342M (p.Val342Met) 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; Epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V342M (p.Val342Met) variant details
- p.Val342Met
- rs760836450
- ClinGen CA2255087
- cosmic curated COSV55113
- ClinVar RCV001092968
- Pathogenic
- Epilepsy with myoclonic atonic seizures; not provided; Epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.64
- CADD 28.50
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures; not provided; Epilepsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)