N70K (p.Asn70Lys) variant of SCN5A (Nav1.5)
N70K (p.Asn70Lys) 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; SCN5A-related disorder; Sick sinus syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N70K (p.Asn70Lys) variant details
- p.Asn70Lys
- rs199473050
- UniProt VAR 074314
- Uncertain significance
- Cardiac arrhythmia; SCN5A-related disorder; Sick sinus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.81
- MetaSVM 0.53
- CADD 17.07
- ClinVar: Uncertain significance (Cardiac arrhythmia; SCN5A-related disorder; Sick sinus syndrome)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)