R190W (p.Arg190Trp) variant of SCN5A (Nav1.5)
R190W (p.Arg190Trp) 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; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R190W (p.Arg190Trp) variant details
- p.Arg190Trp
- rs199473068
- ClinGen CA064632
- cosmic curated COSV10035
- ClinVar RCV001196953
- Uncertain significance
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.98
- MetaSVM 1.05
- CADD 33.00
- ClinVar: Uncertain significance (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)