S32S (p.Ser32Ser) variant of SCN8A (Q9UQD0)
S32S (p.Ser32Ser) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S32S (p.Ser32Ser) variant details
- p.Ser32Ser
- gnomAD 12-51662913-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 13.30
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Literature evidence available