P9L (p.Pro9Leu) variant of SCN9A (Nav1.7)
P9L (p.Pro9Leu) 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.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- Ensembl rs1698968936
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- MetaLR 0.90
- MetaSVM 1.03
- CADD 25.90
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available