R179* (p.Arg179Ter) variant of SCN5A (Q14524)
R179* (p.Arg179Ter) in SCN5A (Q14524) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R179* (p.Arg179Ter) variant details
- p.Arg179Ter
- rs1480085793
- ClinGen CA352153836
- ClinVar RCV000825605
- ClinVar RCV001194085
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.11
- MetaLR 0.90
- MetaSVM 0.46
- CADD 39.00
- PolyPhen-2 0.98
- SIFT 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)