K54K (p.Lys54Lys) variant of SCN8A (Q9UQD0)
K54K (p.Lys54Lys) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K54K (p.Lys54Lys) variant details
- p.Lys54Lys
- rs779576167
- gnomAD 12-51662979-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 11.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available