K52K (p.Lys52Lys) variant of SCN8A (Q9UQD0)
K52K (p.Lys52Lys) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K52K (p.Lys52Lys) variant details
- p.Lys52Lys
- rs1309308977
- gnomAD 12-51662973-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 10.80
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Literature evidence available