R43Q (p.Arg43Gln) variant of SCN5A (Q14524)
R43Q (p.Arg43Gln) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- rs199473047
- ClinGen CA014665
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- Conflicting interpretations
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.52
- CADD 14.00
- PolyPhen-2 0.26
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in LQT3)
- UniProt: Pathogenic (in LQT3)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular… (PMID 18848812)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)