P7S (p.Pro7Ser) variant of SCN9A (Nav1.7)
P7S (p.Pro7Ser) in SCN9A (Nav1.7) 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.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- ExAC rs749215366
- gnomAD rs749215366
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- MetaLR 0.92
- MetaSVM 1.05
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available