R27H (p.Arg27His) variant of SCN5A (Nav1.5)
R27H (p.Arg27His) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiac arrhythmia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs199473045
- ClinGen CA019812
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Conflicting interpretations
- not provided; Cardiac arrhythmia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.64
- MetaSVM 0.40
- CADD 24.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiac arrhythmia; not specified)
- EBI: Pathogenic (in BRGDA1 and LQT3)
- UniProt: Pathogenic (in BRGDA1 and LQT3)
- Most common in the 1KG:PEL population (allele frequency 0.012)
- Structural context available
- Cited in: Natural history of Brugada syndrome: insights for risk stratification and management. (PMID 11901046)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)