T16P (p.Thr16Pro) variant of SCN9A (Nav1.7)
T16P (p.Thr16Pro) in SCN9A (Nav1.7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
T16P (p.Thr16Pro) variant details
- p.Thr16Pro
- Ensembl rs2105227248
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- MetaLR 0.97
- MetaSVM 1.19
- CADD 25.90
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available