E16K (p.Glu16Lys) variant of SLC6A1 (P30531)
E16K (p.Glu16Lys) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs1385319298
- ClinGen CA351788057
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55115
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.38
- AlphaMissense 0.13
- MetaLR 0.17
- MetaSVM -0.85
- CADD 25.20
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)