Y78* (p.Tyr78Ter) variant of KIF5A (Kinesin heavy chain isoform 5A)
Y78* (p.Tyr78Ter) in KIF5A (Kinesin heavy chain isoform 5A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y78* (p.Tyr78Ter) variant details
- p.Tyr78Ter
- gnomAD 12-57563636-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 37.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available