P74H (p.Pro74His) variant of SCN9A (Nav1.7)
P74H (p.Pro74His) 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.
P74H (p.Pro74His) variant details
- p.Pro74His
- TOPMed rs201992546
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- MetaLR 0.99
- MetaSVM 1.02
- CADD 26.10
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available