G24C (p.Gly24Cys) variant of SPG7 (Q9UQ90)
G24C (p.Gly24Cys) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G24C (p.Gly24Cys) variant details
- p.Gly24Cys
- gnomAD 16-89508487-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available