E54K (p.Glu54Lys) variant of SCN9A (Nav1.7)
E54K (p.Glu54Lys) in SCN9A (Nav1.7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- Ensembl rs895331828
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- MetaLR 0.89
- MetaSVM 0.91
- CADD 22.60
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available