I27T (p.Ile27Thr) variant of SCN9A (Nav1.7)
I27T (p.Ile27Thr) in SCN9A (Nav1.7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
I27T (p.Ile27Thr) variant details
- p.Ile27Thr
- gnomAD rs1291370045
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- MetaLR 0.91
- MetaSVM 1.03
- CADD 25.50
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available