S43S (p.Ser43Ser) variant of SCN8A (Q9UQD0)
S43S (p.Ser43Ser) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- gnomAD 12-51662946-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.07
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available
- Literature evidence available