R53W (p.Arg53Trp) variant of SCN5A (Nav1.5)
R53W (p.Arg53Trp) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 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
- Cardiac arrhythmia; not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.67
- MetaSVM 0.63
- CADD 23.90
- ClinVar: Uncertain significance (Cardiac arrhythmia; not specified; Cardiovascular phenotype)
- 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