D25N (p.Asp25Asn) variant of SCN1B (Q07699)
D25N (p.Asp25Asn) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D25N (p.Asp25Asn) variant details
- p.Asp25Asn
- rs786205837
- ClinGen CA302190
- cosmic curated COSV10500
- ClinVar RCV000171059
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.66
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.92
- MetaSVM 0.91
- CADD 29.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Brugada syndrome 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. (PMID 19522081)
- Cited in: A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium… (PMID 29992740)