E39K (p.Glu39Lys) variant of SCN10A (Q9Y5Y9)
E39K (p.Glu39Lys) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- rs570161889
- ClinGen CA2321304
- ClinVar RCV002373289
- ClinVar RCV006470633
- Uncertain significance
- Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.13
- MetaLR 0.72
- MetaSVM -0.11
- CADD 5.59
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Brugada syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)