E60E (p.Glu60Glu) variant of KIF5A (Kinesin heavy chain isoform 5A)
E60E (p.Glu60Glu) in KIF5A (Kinesin heavy chain isoform 5A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E60E (p.Glu60Glu) variant details
- p.Glu60Glu
- rs200900180
- gnomAD 12-57563489-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 9.65
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available