A40A (p.Ala40Ala) variant of SCN8A (Q9UQD0)
A40A (p.Ala40Ala) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs145881860
- gnomAD 12-51662937-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.60
- Most common in the 1KG:YRI population (allele frequency 0.013)
- Structural context available
- Literature evidence available