N70K (p.Asn70Lys) variant of SCN5A (Q14524)
N70K (p.Asn70Lys) 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 specified; Sick sinus syndrome 1. 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.
N70K (p.Asn70Lys) variant details
- p.Asn70Lys
- rs199473050
- ClinGen CA015856
- ClinVar RCV000058481
- ClinVar RCV001699193
- Uncertain significance
- Cardiac arrhythmia; not specified; Sick sinus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.42
- CADD 21.10
- PolyPhen-2 0.23
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiac arrhythmia; not specified; Sick sinus syndrome 1)
- 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: Brugada Syndrome. (PMID 20301690)