R893C (p.Arg893Cys) variant of SCN5A (Nav1.5)
R893C (p.Arg893Cys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiac arrhythmia; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R893C (p.Arg893Cys) variant details
- p.Arg893Cys
- rs199473171
- ClinGen CA016390
- cosmic curated COSV61127
- ClinVar RCV000058517
- Conflicting interpretations
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.01
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Likely pathogenic (in BRGDA1)
- UniProt: Likely pathogenic (in BRGDA1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Brugada Syndrome. (PMID 20301690)