R34H (p.Arg34His) variant of SCN5A (Nav1.5)
R34H (p.Arg34His) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs199473046
- ClinGen CA014189
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- Uncertain significance
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.45
- MetaSVM 0.06
- CADD 18.95
- ClinVar: Uncertain significance (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs199473046)
- UniProt: Uncertain significance (in dbSNP:rs199473046)
- Most common in the East Asian population (allele frequency 0.00019)
- 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)