K63N (p.Lys63Asn) variant of SCN5A (Nav1.5)
K63N (p.Lys63Asn) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K63N (p.Lys63Asn) variant details
- p.Lys63Asn
- cosmic curated COSV60067
- TOPMed rs1460232129
- gnomAD rs1460232129
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.81
- MetaSVM 0.45
- CADD 17.70
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available