N109K (p.Asn109Lys) variant of SCN5A (Nav1.5)
N109K (p.Asn109Lys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N109K (p.Asn109Lys) variant details
- p.Asn109Lys
- rs199473056
- UniProt VAR 074320
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.62
- MetaSVM -0.22
- CADD 14.08
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. (PMID 10532948)