A32T (p.Ala32Thr) variant of SCN4A (Nav1.4)
A32T (p.Ala32Thr) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- ExAC rs750577936
- gnomAD rs750577936
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.18
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available