V48D (p.Val48Asp) variant of KIF5A (Kinesin heavy chain isoform 5A)
V48D (p.Val48Asp) in KIF5A (Kinesin heavy chain isoform 5A) 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, published literature, and structural context.
V48D (p.Val48Asp) variant details
- p.Val48Asp
- gnomAD 12-57563452-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.51
- CADD 24.20
- PolyPhen-2 0.28
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available