R814W (p.Arg814Trp) variant of SCN5A (Nav1.5)
R814W (p.Arg814Trp) 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; not provided; Sick sinus syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R814W (p.Arg814Trp) variant details
- p.Arg814Trp
- rs199473161
- ClinGen CA016173
- NCI-TCGA Cosmic COSV6112
- cosmic curated COSV61129
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Sick sinus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 0.97
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Sick sinus syndrome 1)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)