C21L (p.Cys21Leu) variant of SCN1B (Q07699)
C21L (p.Cys21Leu) in SCN1B (Q07699) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C21L (p.Cys21Leu) variant details
- p.Cys21Leu
- rs1568348569
- gnomAD 19-35032541-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available