V511M (p.Val511Met) variant of SLC6A1 (P30531)
V511M (p.Val511Met) 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; Inborn genetic diseases; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V511M (p.Val511Met) variant details
- p.Val511Met
- rs1064794981
- ClinGen CA16617802
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55117
- Pathogenic
- Epilepsy with myoclonic atonic seizures; Inborn genetic diseases; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.54
- AlphaMissense 0.94
- MetaLR 0.42
- MetaSVM -0.12
- CADD 28.90
- PolyPhen-2 0.96
- ClinVar: Pathogenic (Epilepsy with myoclonic atonic seizures; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)