K31E (p.Lys31Glu) variant of SCN10A (Q9Y5Y9)
K31E (p.Lys31Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- rs2470901730
- ClinGen CA352163215
- ClinVar RCV003021342
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.28
- MetaLR 0.44
- MetaSVM -0.30
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)