V79V (p.Val79Val) variant of SCN8A (Nav1.6)
V79V (p.Val79Val) in SCN8A (Nav1.6) 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.
V79V (p.Val79Val) variant details
- p.Val79Val
- gnomAD 12-51663054-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available