E19K (p.Glu19Lys) variant of SLC6A1 (P30531)
E19K (p.Glu19Lys) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs1490096672
- ClinGen CA351788079
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55114
- Uncertain significance
- not provided; Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Uncertain significance (not provided; Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)