E3Q (p.Glu3Gln) variant of KIF5A (Kinesin heavy chain isoform 5A)
E3Q (p.Glu3Gln) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- TOPMed rs1244142117
- gnomAD rs1244142117
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.25
- CADD 24.70
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available