D73D (p.Asp73Asp) variant of KIF5A (Kinesin heavy chain isoform 5A)
D73D (p.Asp73Asp) in KIF5A (Kinesin heavy chain isoform 5A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D73D (p.Asp73Asp) variant details
- p.Asp73Asp
- gnomAD 12-57563621-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available