E9K (p.Glu9Lys) variant of SCN10A (Q9Y5Y9)
E9K (p.Glu9Lys) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs747174454
- ClinGen CA2321320
- NCI-TCGA Cosmic COSV7186
- cosmic curated COSV71860
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.34
- MetaLR 0.77
- MetaSVM -0.01
- CADD 11.40
- PolyPhen-2 0.11
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome)
- 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: 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)