D73E (p.Asp73Glu) variant of KIF5A (Kinesin heavy chain isoform 5A)
D73E (p.Asp73Glu) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D73E (p.Asp73Glu) variant details
- p.Asp73Glu
- gnomAD 12-57563621-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.63
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available