K91N (p.Lys91Asn) variant of SCN5A (Nav1.5)
K91N (p.Lys91Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
K91N (p.Lys91Asn) variant details
- p.Lys91Asn
- rs2125935232
- ClinGen CA352157699
- cosmic curated COSV60067
- ClinVar RCV001842094
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.91
- MetaSVM 0.97
- CADD 29.90
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available