A288V (p.Ala288Val) variant of SLC6A1 (P30531)
A288V (p.Ala288Val) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A288V (p.Ala288Val) variant details
- p.Ala288Val
- rs794726860
- ClinGen CA200221
- ClinVar RCV000414233
- ClinVar RCV000622292
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.96
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Epilepsy with myoclonic atonic seizures)
- EBI: Pathogenic (in MAE)
- UniProt: Pathogenic (in MAE)
- Population evidence available
- Structural context available
- Cited in: Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. (PMID 25865495)
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)