P49S (p.Pro49Ser) variant of SCN9A (Nav1.7)
P49S (p.Pro49Ser) in SCN9A (Nav1.7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- ExAC rs778143440
- gnomAD rs778143440
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available