G44E (p.Gly44Glu) variant of KIF5A (Kinesin heavy chain isoform 5A)
G44E (p.Gly44Glu) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- gnomAD 12-57563440-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.40
- CADD 29.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available