R53Q (p.Arg53Gln) variant of SCN5A (Nav1.5)
R53Q (p.Arg53Gln) in SCN5A (Nav1.5) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- rs199473049
- ClinGen CA015041
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.43
- ESM-1b 0.23
- AlphaMissense 0.07
- MetaLR 0.25
- MetaSVM -0.79
- CADD 10.83
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Most common in the South Asian population (allele frequency 5.8e-05)
- 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)