R45C (p.Arg45Cys) variant of SCN1B (Q07699)
R45C (p.Arg45Cys) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 13; Brugada syndrome 5; Generalized epilepsy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R45C (p.Arg45Cys) variant details
- p.Arg45Cys
- rs757554677
- ClinGen CA9371961
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52893
- Uncertain significance
- Atrial fibrillation, familial, 13; Brugada syndrome 5; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.81
- MetaSVM 0.55
- CADD 28.50
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 13; Brugada syndrome 5; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)