A3A (p.Ala3Ala) variant of SCN8A (Q9UQD0)
A3A (p.Ala3Ala) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs778177119
- gnomAD 12-51662826-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.40
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available