I70T (p.Ile70Thr) variant of KIF5A (Kinesin heavy chain isoform 5A)
I70T (p.Ile70Thr) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I70T (p.Ile70Thr) variant details
- p.Ile70Thr
- gnomAD 12-57563518-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.74
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available