E46E (p.Glu46Glu) variant of SCN8A (Q9UQD0)
E46E (p.Glu46Glu) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E46E (p.Glu46Glu) variant details
- p.Glu46Glu
- rs762950003
- gnomAD 12-51662955-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 6.97
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available