E44Q (p.Glu44Gln) variant of SCN9A (Nav1.7)
E44Q (p.Glu44Gln) in SCN9A (Nav1.7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- ExAC rs757848676
- gnomAD rs757848676
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- MetaLR 0.94
- MetaSVM 1.08
- CADD 23.10
- PolyPhen-2 0.53
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available