A166D (p.Ala166Asp) variant of SCN5A (Nav1.5)
A166D (p.Ala166Asp) 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 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
A166D (p.Ala166Asp) variant details
- p.Ala166Asp
- rs2471839282
- ClinGen CA352153980
- ClinVar RCV003730086
- ClinVar RCV005645769
- Uncertain significance
- Brugada syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Uncertain significance (Brugada syndrome 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)