K158N (p.Lys158Asn) variant of SCN5A (Q14524)
K158N (p.Lys158Asn) in SCN5A (Q14524) 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 0.67 / 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 0.668
- REVEL 0.66
- CADD 22.30
- PolyPhen-2 0.85
- SIFT 0.03
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available