R34C (p.Arg34Cys) variant of SCN5A (Nav1.5)
R34C (p.Arg34Cys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiac arrhythmia; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs6791924
- ClinGen CA014158
- cosmic curated COSV10645
- ClinVar RCV000041594
- Benign/Likely benign
- Cardiac arrhythmia; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.54
- ESM-1b 0.44
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -0.65
- CADD 22.60
- ClinVar: Benign/Likely benign (Cardiac arrhythmia; Cardiovascular phenotype; not specified)
- EBI: Benign (in dbSNP:rs6791924)
- UniProt: Benign (in dbSNP:rs6791924)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.31)
- Structural context available
- Scores from automatic patch clamping assay of SCN5A variants in HEK293T cells: score 99.2
- Cited in: Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. (PMID 11997281)
- Cited in: Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. (PMID 18378609)