I13V (p.Ile13Val) variant of SLC6A1 (P30531)
I13V (p.Ile13Val) 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 0.36 / 1. The record also includes published literature and structural context.
I13V (p.Ile13Val) variant details
- p.Ile13Val
- rs1553687808
- ClinGen CA351788040
- ClinVar RCV005056373
- Ensembl rs1553687808
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 0.81
- MutPred 0.16
- 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)