L34L (p.Leu34Leu) variant of SCN8A (Q9UQD0)
L34L (p.Leu34Leu) in SCN8A (Q9UQD0) is a synonymous change. 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.
L34L (p.Leu34Leu) variant details
- p.Leu34Leu
- rs369386960
- gnomAD 12-51662919-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 10.40
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available