R225W (p.Arg225Trp) variant of SCN5A (Nav1.5)
R225W (p.Arg225Trp) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; SCN5A-related disorder; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R225W (p.Arg225Trp) variant details
- p.Arg225Trp
- rs199473072
- ClinGen CA019714
- cosmic curated COSV61125
- ClinVar RCV000058835
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; SCN5A-related disorder; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.95
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; SCN5A-related disorder; Cardiac arrhyt)
- EBI: Pathogenic (in PFHB1A, BRGDA1 and LQT3)
- UniProt: Pathogenic (in PFHB1A, BRGDA1 and LQT3)
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available
- Cited in: Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances… (PMID 12574143)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)