T4I (p.Thr4Ile) variant of KIF5A (Kinesin heavy chain isoform 5A)
T4I (p.Thr4Ile) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- gnomAD 12-57550282-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available