K92K (p.Lys92Lys) variant of SCN8A (Q9UQD0)
K92K (p.Lys92Lys) in SCN8A (Q9UQD0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K92K (p.Lys92Lys) variant details
- p.Lys92Lys
- rs940189587
- gnomAD 12-51663093-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 18.30
- Most common in the 1KG:YRI population (allele frequency 0.013)
- Structural context available
- Literature evidence available