R121W (p.Arg121Trp) variant of SCN5A (Q14524)
R121W (p.Arg121Trp) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dilated cardiomyopathy 1E; Brugada syndrome 1; Progressive familial heart block. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R121W (p.Arg121Trp) variant details
- p.Arg121Trp
- rs199473556
- ClinGen CA017341
- cosmic curated COSV60067
- ClinVar RCV000058582
- Pathogenic/Likely pathogenic
- Dilated cardiomyopathy 1E; Brugada syndrome 1; Progressive familial heart block
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.89
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Dilated cardiomyopathy 1E; Brugada syndrome 1; Progressive famil)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)