N97K (p.Asn97Lys) variant of SCN5A (Nav1.5)
N97K (p.Asn97Lys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
N97K (p.Asn97Lys) variant details
- p.Asn97Lys
- rs1424823148
- ClinGen CA352157090
- ClinVar RCV003842379
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- ESM-1b 1.00
- AlphaMissense 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available