S47R (p.Ser47Arg) variant of SCN1B (Q07699)
S47R (p.Ser47Arg) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S47R (p.Ser47Arg) variant details
- p.Ser47Arg
- TOPMed rs1460827220
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.96
- MetaLR 0.79
- MetaSVM 0.34
- CADD 19.70
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available