L75F (p.Leu75Phe) variant of KIF5A (Kinesin heavy chain isoform 5A)
L75F (p.Leu75Phe) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L75F (p.Leu75Phe) variant details
- p.Leu75Phe
- gnomAD 12-57563625-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.66
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available