E49E (p.Glu49Glu) variant of SCN8A (Q9UQD0)
E49E (p.Glu49Glu) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E49E (p.Glu49Glu) variant details
- p.Glu49Glu
- rs1940954332
- gnomAD 12-51662964-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 9.49
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available