L6L (p.Leu6Leu) variant of SCN2A (Q99250)
L6L (p.Leu6Leu) in SCN2A (Q99250) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- gnomAD 2-165295841-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 11.30
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available