G18D (p.Gly18Asp) variant of SPG7 (Q9UQ90)
G18D (p.Gly18Asp) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- gnomAD 16-89508470-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available