R121W (p.Arg121Trp) variant of SCN5A (Nav1.5)
R121W (p.Arg121Trp) 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 Atrial fibrillation, familial, 10; Progressive familial heart block, type 1A; Lo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R121W (p.Arg121Trp) variant details
- p.Arg121Trp
- rs199473556
- ClinGen CA017341
- cosmic curated COSV60067
- ClinVar RCV000058582
- Pathogenic/Likely pathogenic
- Atrial fibrillation, familial, 10; Progressive familial heart block, type 1A; Lo
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.96
- MetaSVM 1.09
- CADD 26.50
- ClinVar: Pathogenic/Likely pathogenic (Atrial fibrillation, familial, 10; Progressive familial heart bl)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Scores from automatic patch clamping assay of SCN5A variants in HEK293T cells: score 14.7
- 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)