T1620M (p.Thr1620Met) variant of SCN5A (Nav1.5)
T1620M (p.Thr1620Met) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiac arrhythmia; Cardiovascular phenotype; Long QT syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
T1620M (p.Thr1620Met) variant details
- p.Thr1620Met
- rs199473282
- UniProt VAR 017684
- Pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; Long QT syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.88
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Brugada syndrome 1)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Structural context available
- Cited in: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. (PMID 10532948)
- Cited in: Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. (PMID 10618304)