G44R (p.Gly44Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
G44R (p.Gly44Arg) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- gnomAD 12-57563439-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.47
- CADD 32.00
- PolyPhen-2 0.63
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available