R14C (p.Arg14Cys) variant of SCN5A (Nav1.5)
R14C (p.Arg14Cys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- rs763770860
- ClinGen CA352159424
- cosmic curated COSV60068
- ClinVar RCV003541753
- Uncertain significance
- Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.74
- MetaSVM 0.64
- CADD 23.60
- ClinVar: Uncertain significance (Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available