I67T (p.Ile67Thr) variant of SCN4A (Nav1.4)
I67T (p.Ile67Thr) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
I67T (p.Ile67Thr) variant details
- p.Ile67Thr
- gnomAD rs1292904922
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.70
- CADD 23.00
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available