A11T (p.Ala11Thr) variant of SCN1B (Q07699)
A11T (p.Ala11Thr) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs2064208679
- ClinGen CA405327837
- ClinVar RCV001211162
- Ensembl rs2064208679
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.18
- ESM-1b 0.09
- AlphaMissense 0.11
- MetaLR 0.79
- MetaSVM 0.14
- CADD 19.20
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)