A204T (p.Ala204Thr) variant of SCN5A (Nav1.5)
A204T (p.Ala204Thr) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Brugada syndrome 1. 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.
A204T (p.Ala204Thr) variant details
- p.Ala204Thr
- rs1378168869
- ClinGen CA352153406
- cosmic curated COSV61138
- ClinVar RCV000781838
- Uncertain significance
- not specified; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.00
- ClinVar: Uncertain significance (not specified; Brugada syndrome 1)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Most common in the South Asian population (allele frequency 2.4e-05)
- 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)