R121Q (p.Arg121Gln) variant of SCN5A (Nav1.5)
R121Q (p.Arg121Gln) 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 not provided; Brugada syndrome 1; SCN5A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R121Q (p.Arg121Gln) variant details
- p.Arg121Gln
- rs199473058
- ClinGen CA017353
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Pathogenic/Likely pathogenic
- not provided; Brugada syndrome 1; SCN5A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.10
- CADD 29.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Brugada syndrome 1; SCN5A-related disorder)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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)