A76G (p.Ala76Gly) variant of KIF5A (Kinesin heavy chain isoform 5A)
A76G (p.Ala76Gly) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A76G (p.Ala76Gly) variant details
- p.Ala76Gly
- gnomAD 12-57563629-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.11
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available