K98N (p.Lys98Asn) variant of SCN5A (Nav1.5)
K98N (p.Lys98Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
K98N (p.Lys98Asn) variant details
- p.Lys98Asn
- rs746634595
- ClinGen CA352157082
- ClinVar RCV003730767
- ClinVar RCV006548773
- Uncertain significance
- Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- ESM-1b 1.00
- AlphaMissense 0.71
- ClinVar: Uncertain significance (Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available