V24W (p.Val24Trp) variant of SCN1B (Q07699)
V24W (p.Val24Trp) in SCN1B (Q07699) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V24W (p.Val24Trp) variant details
- p.Val24Trp
- gnomAD 19-35032555-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 26.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available