L7I (p.Leu7Ile) variant of SCN1B (Q07699)
L7I (p.Leu7Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L7I (p.Leu7Ile) variant details
- p.Leu7Ile
- rs921444794
- ClinGen CA405327815
- ClinVar RCV002304738
- ClinVar RCV004779283
- Uncertain significance
- Brugada syndrome 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.26
- ESM-1b 0.13
- AlphaMissense 0.06
- MetaLR 0.78
- MetaSVM 0.17
- CADD 21.30
- ClinVar: Uncertain significance (Brugada syndrome 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)