L7* (p.Leu7Ter) variant of SCN1B (Q07699)
L7* (p.Leu7Ter) in SCN1B (Q07699) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L7* (p.Leu7Ter) variant details
- p.Leu7Ter
- rs2151745345
- ClinGen CA405327819
- ClinVar RCV001575594
- Ensembl rs2151745345
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 23.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.9e-06)
- Structural context available