R18Q (p.Arg18Gln) variant of SCN5A (Q14524)
R18Q (p.Arg18Gln) 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; Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- rs41311087
- ClinGen CA019208
- ClinVar RCV000041626
- ClinVar RCV000058779
- Conflicting interpretations
- Cardiac arrhythmia; Cardiovascular phenotype; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.66
- CADD 17.10
- PolyPhen-2 0.46
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; Cardiovascular phenotype; Brugada syndrome 1)
- EBI: Likely benign (in BRGDA1 and LQT3)
- UniProt: Likely benign (in BRGDA1 and LQT3)
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)