A57T (p.Ala57Thr) variant of SCN1A (Nav1.1)
A57T (p.Ala57Thr) in SCN1A (Nav1.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- ExAC rs747925160
- gnomAD rs747925160
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available