N109K (p.Asn109Lys) variant of SCN5A (Q14524)
N109K (p.Asn109Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N109K (p.Asn109Lys) variant details
- p.Asn109Lys
- rs199473056
- ClinGen CA016995
- ClinVar RCV000058560
- ClinVar RCV003996535
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.36
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Benign (in BRGDA1)
- UniProt: Benign (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: Brugada Syndrome. (PMID 20301690)