K33K (p.Lys33Lys) variant of SCN8A (Nav1.6)
K33K (p.Lys33Lys) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K33K (p.Lys33Lys) variant details
- p.Lys33Lys
- gnomAD 12-51662916-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 9.39
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available