T187I (p.Thr187Ile) variant of SCN5A (Nav1.5)
T187I (p.Thr187Ile) 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 0.86 / 1. The record also includes published literature and structural context.
T187I (p.Thr187Ile) variant details
- p.Thr187Ile
- rs199473558
- ClinGen CA019380
- ClinVar RCV000058794
- ClinVar RCV006434990
- not provided
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.30
- SIFT 0.00
- ClinVar: not provided (Brugada syndrome)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Structural context available
- Cited in: High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. (PMID 16325048)
- Cited in: Brugada Syndrome. (PMID 20301690)