L7F (p.Leu7Phe) variant of SCN1B (Q07699)
L7F (p.Leu7Phe) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- Ensembl rs1356383677
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.70
- MetaSVM -0.02
- CADD 9.81
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Population evidence available
- Structural context available