E69G (p.Glu69Gly) variant of SCN10A (Nav1.8)
E69G (p.Glu69Gly) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E69G (p.Glu69Gly) variant details
- p.Glu69Gly
- ExAC rs775516663
- gnomAD rs775516663
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.29
- MetaLR 0.77
- MetaSVM 0.60
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available