M1I (p.Met1Ile) variant of SCN5A (Nav1.5)
M1I (p.Met1Ile) in SCN5A (Nav1.5) is a missense change. The available record places it in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs199473550
- ClinGen CA017747
- ClinVar RCV000058625
- not provided
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- ESM-1b 0.99
- AlphaMissense 0.80
- MetaLR 0.72
- MetaSVM 0.61
- CADD 24.10
- SIFT 0.00
- ClinVar: not provided (Brugada syndrome)
- UniProt: Not provided
- 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)