T187I (p.Thr187Ile) variant of SCN5A (Q14524)
T187I (p.Thr187Ile) in SCN5A (Q14524) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T187I (p.Thr187Ile) variant details
- p.Thr187Ile
- rs199473558
- ClinGen CA064561
- ClinVar RCV003139965
- ClinVar RCV004689819
- not provided
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.96
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: not provided (Brugada syndrome)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Population evidence available
- Structural context available
- Cited in: High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. (PMID 16325048)
- Cited in: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. (PMID 10532948)