A61V (p.Ala61Val) variant of SLC6A1 (P30531)
A61V (p.Ala61Val) 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 0.55 / 1. The record also includes published literature and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- rs2124905520
- ClinGen CA351788357
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55118
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.98
- MetaLR 0.63
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.67
- EVE 0.33
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)