G44G (p.Gly44Gly) variant of KIF5A (Kinesin heavy chain isoform 5A)
G44G (p.Gly44Gly) in KIF5A (Kinesin heavy chain isoform 5A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G44G (p.Gly44Gly) variant details
- p.Gly44Gly
- gnomAD 12-57563441-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 9.22
- Population evidence available
- Structural context available
- Literature evidence available