G43W (p.Gly43Trp) variant of KIF5A (Kinesin heavy chain isoform 5A)
G43W (p.Gly43Trp) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G43W (p.Gly43Trp) variant details
- p.Gly43Trp
- gnomAD 12-57550398-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.46
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available