R8W (p.Arg8Trp) variant of SCN5A (Nav1.5)
R8W (p.Arg8Trp) 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 0.58 / 1. The record also includes population frequency data and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1490175548
- ClinGen CA352159577
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60066
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.66
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.67
- MetaSVM 0.50
- CADD 25.70
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available