P74L (p.Pro74Leu) variant of SCN9A (Nav1.7)
P74L (p.Pro74Leu) in SCN9A (Nav1.7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P74L (p.Pro74Leu) variant details
- p.Pro74Leu
- TOPMed rs201992546
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.50
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available