C8Y (p.Cys8Tyr) variant of KIF5A (Kinesin heavy chain isoform 5A)
C8Y (p.Cys8Tyr) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
C8Y (p.Cys8Tyr) variant details
- p.Cys8Tyr
- TOPMed rs940856567
- gnomAD rs940856567
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.53
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available