R18W (p.Arg18Trp) variant of SCN5A (Q14524)
R18W (p.Arg18Trp) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiac arrhythmia; Cardiovascular phenotype; not specified. 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
- Cardiac arrhythmia; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.84
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; Cardiovascular phenotype; not specified)
- 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)