R18W (p.Arg18Trp) variant of SCN5A (Nav1.5)
R18W (p.Arg18Trp) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Dilated cardiomyopathy 1E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- rs199473044
- ClinGen CA019099
- cosmic curated COSV60066
- ClinVar RCV000058764
- Conflicting interpretations
- not provided; not specified; Dilated cardiomyopathy 1E
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.72
- MetaSVM 0.61
- CADD 22.30
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Dilated cardiomyopathy 1E)
- EBI: Benign (found in a patient with long QT syndrome)
- UniProt: Benign (found in a patient with long QT syndrome)
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)