V74A (p.Val74Ala) variant of KIF5A (Kinesin heavy chain isoform 5A)
V74A (p.Val74Ala) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V74A (p.Val74Ala) variant details
- p.Val74Ala
- gnomAD 12-57563623-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.70
- CADD 27.70
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available