K91M (p.Lys91Met) variant of SCN5A (Nav1.5)
K91M (p.Lys91Met) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
K91M (p.Lys91Met) variant details
- p.Lys91Met
- rs2471903897
- ClinGen CA352157704
- ClinVar RCV002305023
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.80
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)