R45H (p.Arg45His) variant of SCN1B (Q07699)
R45H (p.Arg45His) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Atrial fibrillation, familial, 13; Generalized epileps. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- rs180943300
- ClinGen CA302149
- cosmic curated COSV52894
- ClinVar RCV000171036
- Uncertain significance
- Cardiovascular phenotype; Atrial fibrillation, familial, 13; Generalized epileps
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.76
- MetaSVM 0.36
- CADD 27.80
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial fibrillation, familial, 13; Gen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)