V48F (p.Val48Phe) variant of KIF5A (Kinesin heavy chain isoform 5A)
V48F (p.Val48Phe) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V48F (p.Val48Phe) variant details
- p.Val48Phe
- gnomAD 12-57563451-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.42
- CADD 22.70
- PolyPhen-2 0.29
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available