G297V (p.Gly297Val) variant of SLC6A1 (P30531)
G297V (p.Gly297Val) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G297V (p.Gly297Val) variant details
- p.Gly297Val
- rs1697598818
- ClinGen CA351790345
- ClinVar RCV005057124
- Ensembl rs1697598818
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance (in MAE)
- UniProt: Uncertain significance (in MAE)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)