K126E (p.Lys126Glu) variant of SCN5A (Q14524)
K126E (p.Lys126Glu) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
K126E (p.Lys126Glu) variant details
- p.Lys126Glu
- rs185492581
- UniProt VAR 026343
- TOPMed rs185492581
- gnomAD rs185492581
- Uncertain significance
- Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.93
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiac arrhythmia; not provided)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Novel mutations in domain I of SCN5A cause Brugada syndrome. (PMID 12051963)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)