K37Q (p.Lys37Gln) variant of SCN1B (Q07699)
K37Q (p.Lys37Gln) 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 0.31 / 1. The record also includes published literature and structural context.
K37Q (p.Lys37Gln) variant details
- p.Lys37Gln
- rs1555720587
- ClinGen CA405328017
- ClinVar RCV003622673
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- ESM-1b 0.11
- AlphaMissense 0.55
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)