R53W (p.Arg53Trp) variant of SCN5A (Q14524)
R53W (p.Arg53Trp) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R53W (p.Arg53Trp) variant details
- p.Arg53Trp
- rs878859550
- ClinGen CA72951821
- cosmic curated COSV60067
- ClinVar RCV001269146
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; not specified)
- EBI: Variant of uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available