R190Q (p.Arg190Gln) variant of SCN5A (Nav1.5)
R190Q (p.Arg190Gln) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R190Q (p.Arg190Gln) variant details
- p.Arg190Gln
- rs199473069
- ClinGen CA019436
- cosmic curated COSV10034
- ClinVar RCV000058799
- Uncertain significance
- Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.98
- MetaSVM 1.06
- CADD 29.50
- ClinVar: Uncertain significance (Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular pheno)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)