G18C (p.Gly18Cys) variant of SPG7 (Q9UQ90)
G18C (p.Gly18Cys) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- gnomAD 16-89508469-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 19.50
- PolyPhen-2 0.32
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available