P8T (p.Pro8Thr) variant of SCN1A (Nav1.1)
P8T (p.Pro8Thr) in SCN1A (Nav1.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD rs1400870623
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available