A28D (p.Ala28Asp) variant of SPG7 (Q9UQ90)
A28D (p.Ala28Asp) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 16-89508500-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 5.04
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available