A11V (p.Ala11Val) variant of SCN1B (Q07699)
A11V (p.Ala11Val) 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; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- TOPMed rs2064208694
- gnomAD rs2064208694
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.71
- MetaSVM 0.17
- CADD 21.30
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available