E44V (p.Glu44Val) variant of SCN9A (Q15858)
E44V (p.Glu44Val) in SCN9A (Q15858) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E44V (p.Glu44Val) variant details
- p.Glu44Val
- ExAC rs746381295
- gnomAD rs746381295
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- MetaLR 0.88
- MetaSVM 0.85
- CADD 21.80
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available