G27A (p.Gly27Ala) variant of KIF5A (Kinesin heavy chain isoform 5A)
G27A (p.Gly27Ala) 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.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- gnomAD 12-57550351-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.49
- CADD 24.90
- PolyPhen-2 0.29
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available