K158N (p.Lys158Asn) variant of SCN5A (Nav1.5)
K158N (p.Lys158Asn) in SCN5A (Nav1.5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
K158N (p.Lys158Asn) variant details
- p.Lys158Asn
- rs2471848165
- ClinGen CA2697550811
- ClinVar RCV003573705
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.91
- MetaSVM 0.89
- CADD 19.23
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available