A2T (p.Ala2Thr) variant of SCN4A (Nav1.4)
A2T (p.Ala2Thr) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD rs1909660941
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.45
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available